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Establishment of a non-integrated iPSC (SDQLCHi066-A) line derived from Segawa syndrome patients harboring heterozygous mutations in the TH gene (p.G247S and p.D491H) Stem Cell Res. (IF 1.2) Pub Date : 2024-03-14 Xue Zhang, Zilong Li, Yi Liu, Hongmei Xin, Zhongtao Gai
Segawa syndrome, an autosomal recessive genetic disorder, arises from homozygous or compound heterozygous mutations in the TH gene. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of an 4-month-old girl with Segawa syndrome, who carried compound heterozygous mutations of c.739G > A/chr11:2188714 and c.1471G > C/chr11:2185579 in TH. The iPSCs
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Generation and characterization of an iPS cell line (PUMCi006-A) from skin fibroblasts of a patient with an M239T mutation in PSEN2 gene Stem Cell Res. (IF 1.2) Pub Date : 2024-03-14 Wanwan Zhu, Jinjuan Zhou, Li Shang, You Zhou, Qingyu Wang, Yuesong Yu, Liling Dong, Chenhui Mao, Shanshan Chu, Wei Jin, Jie Li, Jing Gao
() mutation is one of the pathogenic factors of autosomal dominant early-onset Alzheimer's disease (EOAD). We generated a human induced pluripotent stem cell (iPSC) line from fibroblasts of an EOAD patient carrying mutation (c.716 T > C) utilizing Sendai reprogramming kit. The resulting iPSC line carried patient-specific point mutation, exhibited typical iPSC morphology, retained a normal karyotype
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Generation of an induced pluripotent stem cell line (SJTUGHi001-A) from a patient with Retinitis Pigmentosa carrying c.77C > T mutation in RAX2 gene Stem Cell Res. (IF 1.2) Pub Date : 2024-03-14 Xinyue Bai, Jieqiong Chen, Xiaohuan Zhao, Xinyue Zhu, Xiaoyan Ding, Ting Zhang, Mei Jiang, Xiaodong Sun
Retinitis pigmentosa (RP) is a group of genetically heterogeneous retinopathy resulting in irreversible loss of vision. Mutations in gene has been related to RP with mechanisms unclear. Here, we generated a human induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a RP patient carrying c.77C > T mutation in gene. This cell line was induced by integration-free episomal
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Generation and characterization of an induced pluripotent stem cell (iPSC) line SDQLCHi063-A from peripheral blood mononuclear cells of a patient with Maturity-onset diabetes of the young type 2 carrying GCK exon 1 deletion Stem Cell Res. (IF 1.2) Pub Date : 2024-03-13 Min Gao, Xinyu Li, Yuqiang Lv, Xiaomeng Yang, Yi Liu, Zhongtao Gai
Maturity-onset diabetes of the young type 2 (MODY2) is an autosomal dominant disorder caused by mutations in the GCK gene. It is characterized by a non-progressive slight increase in glycosylated hemoglobin (HbA1c), and mildly raised fasting glucose. Here, we generated an induced pluripotent stem cell line SDQLCHi063-A from a five-year-old boy with MODY2 carrying exon 1 deletion of the gene (OMIM*138079)
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Establishment of a human induced pluripotent stem cell line, KMUGMCi010-A, from a patient with X-linked Ohdo syndrome bearing missense mutation in the MED12 gene Stem Cell Res. (IF 1.2) Pub Date : 2024-03-13 Hiroki Ura, Sumihito Togi, Hisayo Hatanaka, Yo Niida
X-linkded Ohdo syndrome is characterized mainly by intellectual disability, delays in reaching development, feeding difficulties, thyroid dysfunction, and dysmorphic appearance with blepharophimosis, immobile mask-like face and bulbous nose. The X-linked Ohdo syndrome is caused by loss of function mutation in gene on X chromosome. The peripheral blood mononuclear cells from a patient carrying missense
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Generation of a human induced pluripotent stem cell line harboring heteroplasmic m.3243A > G mutation in MT-TL1 gene Stem Cell Res. (IF 1.2) Pub Date : 2024-03-12 Min Song, Shuangshuang Chen, Manna Zhang, Shijun Hu, Wei Lei, Miao Yu
Mitochondrial diseases are disorders caused primarily by mutations in mitochondrial DNA, with the mitochondrial 3243A > G (m.3243A > G) mutation being one of the most common pathogenic mutations. Here, a pluripotent stem cell line with high m.3243A > G mutation load was generated by reprogramming the skin fibroblasts from a patient with mitochondrial disease. This cell line exhibited pluripotency,
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Establishment of an induced pluripotent stem cell (iPSC) line (INNDSUi005-A) from a healthy female Chinese Han Stem Cell Res. (IF 1.2) Pub Date : 2024-03-12 Wenzhu Liu, Yingxin Wang, Yitong Yang, Yu Wang, Yao Tang, Yichang Jiao, Didi Shan, Zexin Zhan, Rui Zhang, Dongdong Wang, Xiaohan Sun, Ping Sun, Xiulian Sun, Chuanzhu Yan, Fuchen Liu
We obtained skin fibroblasts from a 34-year-old healthy woman and established a human induced pluripotent stem cell (hiPSC) line (INDSUi005-A) using a non-integrated reprogramming approach. The obtained cells have typical characteristics of embryonic stem cells, can express specific pluripotency markers and have the ability to differentiate into three germ layers . This iPSC cell line can be used as
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Establishment of a non-integrated iPSC (SDQLCHi068-A) line derived from a patient with autosomal dominant immunodeficiency-14A carrying a heterozygous mutation (c.3061G>A) in PIK3CD gene Stem Cell Res. (IF 1.2) Pub Date : 2024-03-11 Hongmei Xin, Yuqiang Lv, Xuxia Wei, Wei Song, Zilong Li, Yi Liu, Zhongtao Gai
Phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta () gene (OMIM#602839) encodes the p110δ catalytic subunit, mainly expressed in immune cells, and is associated with autosomal dominant immunodeficiency-14A with lymphoproliferation (IMD14A, #615513). We generated a human iPS cell line from a 50-month-old boy with IMD14A carrying a heterozygous mutation (c.3061G>A, p.E1021K) in
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Generation of a human embryonic stem cell line (SMUDHe010-A-1A) carrying Brainbow cassette in the AAVS1 gene by CRISPR/Cas9-mediated homologous recombination Stem Cell Res. (IF 1.2) Pub Date : 2024-03-11 Yingying Luo, Wen Zheng, Yadang Zhong, Huiting Liu, Jing Yu, Biying Qiu, Jun Liu, Bin Yang
Tracking single-cell lineages and their phenotypes longitudinally would help us better study skin development. Brainbow multicolor labeling approach is a genetic cell-labeling technique that tracks individual cells or analyzes cell lineages during development. Hence, we generated a stable Cre-inducible rainbow reporter human embryonic stem cell line (Named SMUDHe010-A-1A) by inserting the fluorescent
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Generation of a TBX20 homozygous knockout stem cell line (WAe009-A-1E) by episomal vector-based CRISPR/Cas9 system Stem Cell Res. (IF 1.2) Pub Date : 2024-03-11 Xiaojie Hou, Junsheng Mu
The T-box family transcription factor gene TBX20 plays a crucial role in cardiac development and function. TBX20 mutations are associated with congenital heart disease, dilated cardiomyopathy, arrhythmias, and heart failure. To further study the role of TBX20 in human heart, here we generated a homozygous TBX20 knockout (TBX20-KO) human embryonic stem cell line using the CRISPR/Cas9 system. This TBX20-KO
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Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A) Stem Cell Res. (IF 1.2) Pub Date : 2024-03-11 Istaq Ahmad, Asangla Kamai, Sana Zahra, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq
Friedreich’s ataxia is a spinocerebellar degenerative disease caused by microsatellite (GAA.TTC)n repeat expansion in the first intron of gene. Here, we developed iPSC lines from an FRDA patient (IGIBi016-A) and non-FRDA healthy control (IGIBi017-A). Both iPSC lines displayed typical iPSC morphology, expression of pluripotency markers, regular karyotypes (46, XY; 46, XX), capacity to grow into three
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Generation of Leber congenital amaurosis, type 12 patient-specific induced pluripotent stem cell line (LVPEIi006-A), harboring a homozygous mutation in RD3 Stem Cell Res. (IF 1.2) Pub Date : 2024-03-10 Sudipta Mahato, Savitri Maddileti, Milind Naik, Chitra Kannabiran, Subhadra Jalali, Indumathi Mariappan
Leber congenital amaurosis (LCA) is a congenital, early onset, autosomal recessive inherited retinal disease (IRD). This report describes an LCA12 patient-specific iPSC line (LVPEIi006-A), generated by the reprogramming of dermal fibroblasts using integration-free episomal plasmids.This disease-specific iPSC model carries a homozygous point mutation in , within the donor splice site at the end of exon
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Establishment of a human induced pluripotent stem cell line(SDQLCHi059-A)from a patient with congenital disorder of glycosylation carrying heterozygous mutation in MPI gene Stem Cell Res. (IF 1.2) Pub Date : 2024-03-08 Bin Wang, Lu Yang, Min Gao, Haiyan Zhang, Yi Liu, Zhongtao Gai
Congenital disorder of glycosylation (CDG) is inherited metabolicdiseasecaused by defects in the genes important for the process of protein and lipidglycosylation. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 6-month-old boy with congenital disorder of glycosylation carrying heterozygous mutations c.1193 T > C (p.I398T) and c.376_384dup CCGCAGCAC
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Generation of homozygous and heterozygous REEP1 knockout induced pluripotent stem cell lines by CRISPR/Cas9 gene editing Stem Cell Res. (IF 1.2) Pub Date : 2024-03-05 M. Korneck, A. Leonhardt, L. Schöls, S. Hauser
REEP1 is a transmembrane protein in the endoplasmic reticulum (ER) membrane that is involved in shaping and remodeling of the ER. Mutations in cause SPG31, an autosomal dominant form of hereditary spastic paraplegia (HSP). Here we show the generation of a homozygous and a heterozygous knockout induced pluripotent stem cell line suitable for disease modelling using the CRISPR/Cas9 editing system.
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Generation of two human induced pluripotent stem cell lines with BAX and BAK1 double knock-out using CRISPR/Cas9 Stem Cell Res. (IF 1.2) Pub Date : 2024-03-05 Katarzyna Anna Ludwik, Lina Hellwig, Tanja Fisch, Jörg Contzen, Claudia Schaar, Philipp Mergenthaler, Harald Stachelscheid
Bcl-2-associated X protein () and Blc-2 homologous antagonist killer 1 () are two pro-apoptotic members of BCL2 family. Here, two / double knock-out human induced pluripotent stem cell lines (iPSC) we generated using CRISPR-Cas9 to generate apoptosis incompetent cell lines. The resulting cell lines were karyotypically normal, had typical morphology and expressed typical markers for the undifferentiated
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Generation of a human induced pluripotent stem cell line NTUHi004-A from a patient with Leigh syndrome harboring a homozygous missense mutation c.836 T > G (p.Met279Arg) in NDUFAF5 gene Stem Cell Res. (IF 1.2) Pub Date : 2024-03-05 Chih-Hsin Ou-Yang, Pin-Shiuan Chen, Chin-Hsien Lin
Leigh syndrome is a rare autosomal recessive disorder showcasing a diverse range of neurological symptoms. Classical Leigh syndrome is associated with mitochondrial complex I deficiency, primarily resulting from biallelic mutations in the gene, encoding the NADH:ubiquinone oxidoreductase complex assembly factor 5. Using the Sendai virus delivery system, we generated an induced pluripotent stem cell
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The generation and validation of a dual cardiac HAND1-Tomato NKX2-5-GFP human embryonic stem cell line UMANe002-A-3 Stem Cell Res. (IF 1.2) Pub Date : 2024-03-04 A.T. Lynch, M. Douglas, S.J. Kimber, M.J. Birket
The transcription factor HAND1 is a critical regulator of cardiac development which is expressed in sub-populations of cardiac progenitors and cardiomyocytes. The transcription factor NKX2-5, in contrast, is expressed more widely in cardiac cells. Here we report the generation of a dual reporter hESC line where the expression of these genes can be simultaneously measured, enabling lineage analysis
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Generation of a ISL1 homozygous knockout stem cell line (WAe009-A-1G) by episomal vector-based CRISPR/Cas9 system Stem Cell Res. (IF 1.2) Pub Date : 2024-03-04 Xiaojie Hou, Wei Fan, Jun Zeng, Zhen Gao, Juyi Wan, Bin Liao
The ISL LIM homeobox 1 (ISL1) gene belongs to the LIM/homeodomain transcription factor family and plays a pivotal role in conveying multipotent and proliferative properties of cardiac precursor cells. Mutations in ISL1 are linked to congenital heart disease. To further explore ISL1′s role in the human heart, we have created a homozygous ISL1 knockout (ISL1-KO) human embryonic stem cell line using the
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Generation of three myotonic dystrophy type 1 patient iPSC lines (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from lymphoblastoid cell lines for disease modelling and therapeutic research Stem Cell Res. (IF 1.2) Pub Date : 2024-03-03 Marion Pierre, Dominic Jauvin, Jack Puymirat, Mohamed Boutjdir, Mohamed Chahine
Myotonic dystrophy type 1 (DM1) is the most prevalent adult-onset muscular dystrophy affecting 1 in 8,000 individuals. It is characterized by multisystemic symptoms, primarily myopathy. The root cause of DM1 is a heterozygous CTG triplet expansion beyond the normal size threshold in the non-coding region of the DM1 protein kinase gene (). In our study, we generated and characterized three distinct
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Generation of an induced pluripotent stem cell (iPSC) line from a Parkinson’s disease patient with a pathogenic LRP10/c.688C > T(p.Arg230Trp) mutation Stem Cell Res. (IF 1.2) Pub Date : 2024-03-03 Yan Wang, Chuanfei Wei, Yanming Liu, Xianjie Lu, Wei Wang, Na Song, Wei Zhang, Jun Xu, Wei Zhang, Fabin Han
Parkinson’s disease (PD) is a highly prevalent and severe neurodegenerative disease that affects more than 10 million individuals worldwide. Pathogenic mutations in LRP10 have been associated with autosomal dominant PD. Here, we report an induced pluripotent stem cell (iPSC) line generated from a PD patient harboring the LRP10 c.688C > T (p.Arg230Trp) variant. Skin fibroblasts from the PD patient were
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Generation of heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) NR2F2/COUP-TFII knockout human iPSC lines Stem Cell Res. (IF 1.2) Pub Date : 2024-03-02 Lucas G.A. Ferreira, Mauricio C. Cabral-da-Silva, Svenja Pachernegg, Jocelyn A. van den Bergen, Gorjana Robevska, Katerina Vlahos, Sara E. Howden, Elizabeth S. Ng, Magnus R. Dias-da-Silva, Andrew H. Sinclair, Katie L. Ayers
The gene encodes the transcription factor COUP-TFII, which is upregulated in embryonic mesoderm. Heterozygous variants in cause a spectrum of congenital anomalies including cardiac and gonadal phenotypes. We generated heterozygous (MCRIi030-A-1) and homozygous (MCRIi030-A-2) -knockout induced pluripotent stem cell (iPSC) lines from human fibroblasts using a one-step protocol for CRISPR/Cas9 gene-editing
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Generation and characterization of three CRISPR/Cas9 edited RB1 null hiPSC lines for retinoblastoma disease modelling Stem Cell Res. (IF 1.2) Pub Date : 2024-03-02 Trupti Agrawal, Savitri Maddileti, Indumathi Mariappan
Complete loss of RB1 causes retinoblastoma. Here, we report the generation of three RB1 iPSC lines using CRISPR/Cas9 based editing at exon 18 of in a healthy control hiPSC line. The edited cells were clonally expanded, genotyped and characterized to establish the mutant lines. Two of the mutant lines are compound heterozygous, with different in-del mutations in each of their alleles, while the third
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Generation of two patient specific GABRD variants and their isogenic controls for modeling epilepsy Stem Cell Res. (IF 1.2) Pub Date : 2024-03-02 Morad Kamand, Reema Taleb, Methi Wathikthinnakon, Fadumo Abdullahi Mohamed, Said Pasalar Ghazanfari, Denis Konstantinov, Jonas Laugård Hald, Bjørn Holst, Charlotte Brasch-Andersen, Rikke S. Møller, Johannes R. Lemke, Ilona Krey, Kristine Freude, Abinaya Chandrasekaran
Developmental and epileptic encephalopathies (DEEs) are early-onset conditions that cause intractable seizures and developmental delays. Missense variants in Gamma-aminobutyric acid type A receptor (GABAAR) subunits commonly cause DEEs. Ahring et al. (2022) showed a variant in the gene that encodes the delta subunit () is strongly associated with the gain-of-function of extrasynaptic GABAAR. Here,
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Generation of an induced pluripotent stem cell line GWCMCi006-A from a patient with autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures harboring GRIN1 c.389A > G mutation Stem Cell Res. (IF 1.2) Pub Date : 2024-02-29 Zhen Shi, Huan Liu, Fangmei Feng, Zhifang Huang, Wen-Xiong Chen
Autosomal dominant neurodevelopmental disorder with or without hyperkinetic movements and seizures (NDHMSD) is a rare neurological disorder characterized by neurodevelopmental disorder and hyperkinetic movement, with or without seizures. Heterozygous mutation in the encoding the subunit 1 of the N-methyl-D-aspartate receptor caused this disorder. We first established an induced pluripotent stem cell
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Generation of induced pluripotent stem cells (UCLi024-A) from a patient with argininosuccinate lyase deficiency carrying a homozygous c.437G > A (p.Arg146Gln) mutation Stem Cell Res. (IF 1.2) Pub Date : 2024-02-28 Claire Duff, Madeha Islam, Onelia Gagliano, Hema Pramod, Hassan Rashidi, Manju A. Kurian, Paul Gissen, Julien Baruteau
Argininosuccinic aciduria (ASA) is a rare inherited metabolic disease caused by argininosuccinate lyase (ASL) deficiency. Patients with ASA present with hyperammonaemia due to an impaired urea cycle pathway in the liver, and systemic disease with epileptic encephalopathy, chronic liver disease, and arterial hypertension. A human induced pluripotent stem cell (iPSC) line from the fibroblasts of a patient
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Generation of human induced pluripotent stem cell line from a patient with restrictive cardiomyopathy Stem Cell Res. (IF 1.2) Pub Date : 2024-02-28 Jingxian Li, Jinxiu Jiang, Lingqun Ye, Zhipeng Lian, Hui Gong, Wei Lei, Yuxiang Dai, Shijun Hu
Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy characterized by diastolic dysfunction, which affects cardiac systolic function. We successfully established human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells of 24-year-old male with restrictive cardiomyopathy (RCM). The patient-derived hiPSCs carried heterozygous mutation of gene (c.326A > G, p.D109G), which
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Establishment of a transgene-free iPS cell line (SDCHi003-A) from a young patient bearing a NPRL2 mutation and suffering from Epilepsy Stem Cell Res. (IF 1.2) Pub Date : 2024-02-28 Song Su, Fen Zhao, Hongwei Zhang, Yi Liu, Zilong Li, Huan Zhang, Yaping Wang, Fang Fang, Yong Liu
Epilepsy affects ∼ 65 million people worldwide. Status epilepticus can lead to life-threatening if untreated. In this study, peripheral blood mononuclear cells were isolated from a young patient patient bearing a Nitrogen Perntease Regulator Like 2 Protein (NPRL2) mutation and suffering from Epilepsy verified by clinical and genetic diagnosis. Induced pluripotent stem cells (iPSCs) were established
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Derivation of an induced pluripotent stem cell line (FDCHi014-A) from PBMCs of a seven-year-old patient with a truncating NOVA2 variant (c.625del) Stem Cell Res. (IF 1.2) Pub Date : 2024-02-28 Tingting Yin, Yanyan Qian, Xi Zhang, Yunfei Liao, Bingbing Wu, Sujuan Wang, Huijun Wang
Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities (NEDASB) is a rare autosomal dominant disorder caused by a heterozygous mutation in the gene on chromosome 19q13. Here, we describe the generation and characterization of an iPSC line derived from the peripheral blood of a 7-year-old patient carrying a novel heterozygous mutation in (c.625 del). The
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An iPSC line (FINi003-A) from a male with late-onset developmental and epileptic encephalopathy caused by a heterozygous p.E1211K variant in the SCN2A gene encoding the voltage-gated sodium channel Nav1.2 Stem Cell Res. (IF 1.2) Pub Date : 2024-02-28 Dmitry A. Ovchinnikov, Sharon Jong, Claire Cuddy, Kelly Dalby, Orrin Devinsky, Saul Mullen, Snezana Maljevic, Steve Petrou
Many developmental and epileptic encephalopathies (DEEs) result from variants in cation channel genes. Using mRNA transfection, we generated and characterised an induced pluripotent stem cell (iPSC) line from the fibroblasts of a male late-onset DEE patient carrying a heterozygous missense variant (E1211K) in Na1.2(SCN2A) protein. The iPSC line displays features characteristic of the human iPSCs, colony
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Generation of an induced pluripotent stem cell line (PNUYHi002-A) from a patient with Alzheimer’s disease carrying PRNP M232R variant Stem Cell Res. (IF 1.2) Pub Date : 2024-02-28 Mi Kyoung Kim, Yoon Kim, Nayeon Lee, Hye-Ji Moon, Jae-Hyeok Lee, Eun-Joo Kim, Yong Jun Kim, Jae-Ho Kim, Na-Yeon Jung
We generated a human induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells isolated from a 59-year-old male patient with Alzheimer’s disease (AD). The iPSC line was meticulously characterized to confirm its pluripotency, absence of transgenes, and normal karyotype. The unexpected discovery of the M232R variant in PRNP makes this cell line a valuable resource for investigating
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Establishment of human induced pluripotent stem cell line SDQLCHi029-A from one Type 1 familial glucocorticoid deficiency patient carrying compound heterozygote mutations in MC2R gene Stem Cell Res. (IF 1.2) Pub Date : 2024-02-27 Haiyan Zhang, Chen Liu, Yi Liu, Zhongtao Gai
Type 1 familial glucocorticoid deficiency (FGD) is a rare autosomal recessive disorder due to variation of the melanocortin-2-receptor (MC2R) gene. Induced pluripotent stem cell (iPSC) line SDQLCHi029-A was successfully generated from peripheral blood mononuclear cells obtained from a 5-day-old girl with MC2R mutations (c.428C > T and c.409C > T). The iPSC line showed genetically stable and matched
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Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer’s disease carrying an ABCA7 deletion (p.Arg578Alafs) Stem Cell Res. (IF 1.2) Pub Date : 2024-02-25 Holly N. Cukier, Shaina A. Simon, Eugene Tang, Charles G. Golightly, Mayra Juliana Laverde-Paz, Larry Deon Adams, Takiyah D. Starks, Jeffery M. Vance, Michael L. Cuccaro, Jonathan L. Haines, Goldie S. Byrd, Margaret A. Pericak-Vance, Derek M. Dykxhoorn
The () gene is associated with Alzheimer’s disease (AD) risk in populations of African, Asian, and European ancestry. Numerous mutations contributing to risk have been identified, including a 44 base pair deletion (rs142076058) specific to individuals of African ancestry and predicted to cause a frameshift mutation (p.Arg578Alafs) (Cukier et al., 2016). The UMi043-A human induced pluripotent stem cell
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An iPSC model for POLR3A-associated spastic ataxia: Generation of three unrelated patient cell lines Stem Cell Res. (IF 1.2) Pub Date : 2024-02-25 Kalaivani Manibarathi, Tam Pham, Holger Hengel, Matthis Synofzik, Maike Nagel, Rebecca Schüle
Spastic Ataxias (SA) are a group of neurodegenerative disorders with combined pyramidal and cerebellar system affection, leading to an overlap phenotype between Hereditary Spastic Paraplegias (HSP) and Cerebellar Ataxias (CA). Here we describe the generation of iPSCs from three unrelated patients with an ultra-rare subtype of SA caused by compound heterozygous mutations in , that encodes the largest
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Generation of induced pluripotent stem cell lines from two unrelated individuals with familial hypertrophic cardiomyopathy carrying MYBPC3 nonsense mutations Stem Cell Res. (IF 1.2) Pub Date : 2024-02-24 Marta Ribeiro, Joanna Jager, Marta Furtado, Teresa Carvalho, Joaquim M.S. Cabral, Dulce Brito, Maria Carmo-Fonseca, Sandra Martins, Simão Teixeira da Rocha
Familial hypertrophic cardiomyopathy (HCM) stands as a predominant heart condition, characterised by left ventricle hypertrophy in the absence of any associated loading conditions, with affected individuals having an increased risk of developing heart failure and sudden cardiac death (SCD). Two induced pluripotent stem cell (iPSC) lines were derived from peripheral blood mononuclear cells obtained
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Generation of an induced pluripotent stem cell line (KNIHi001-A) by reprogramming peripheral blood mononuclear cells isolated from a patient with Parkinson's disease Stem Cell Res. (IF 1.2) Pub Date : 2024-02-23 Daye Baek, Kun-Gu Lee, Hee-Young Sohn, Jung Hyun Park, Hye-Kyung Lee, Govigerel Bayarsaikhan, Sang-Won Yoo, Bonghee Lee, Joong-Seok Kim, Young Ho Koh, Munjin Kwon
Parkinson's disease is a degenerative brain disorder characterized by dopamine neuronal degeneration and dopamine transporter loss. In this study, we generated an induced pluripotent stem cell (iPSC) line, KNIHi001-A, from the peripheral blood mononuclear cells (PBMCs) of a 76-year-old man with Parkinson's disease. The non-integrating Sendai virus was used to reprogram iPSCs. iPSCs exhibit pluripotent
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Generation of induced pluripotent stem cell line NIMHi010-A from dermal fibroblast cells of a healthy individual Stem Cell Res. (IF 1.2) Pub Date : 2024-02-23 Suravi Sasmita Dash, Gautham Arunachal, Madhura Milind Nimonkar, Seena Vengalil, Saraswati Nashi, Ghati K. Chetan, Vijay Kumar Boddu, Atchayaram Nalini, Yogananda S. Markandeya
In this study, we have established human induced pluripotent stem cell (hiPSC) line, of a 42-year-old healthy donor. The iPSC line was generated from human dermal fibroblasts using Sendai viruses carrying reprogramming factors c-MYC, SOX2, KLF4, and OCT4 under a feeder-free culture system. The generated hiPSC line expressed typical pluripotency markers, displayed a normal karyotype, and demonstrated
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Generation and characterization of the iPS cell line (SYSUSHi001-A) derived from the peripheral blood mononuclear cells (PBMCs) of a 33-year-old patient with acute myeloid leukemia (AML) Stem Cell Res. (IF 1.2) Pub Date : 2024-02-23 Lihua Yuan, Mei Xie, Yuan Tao, Xiaojun Xu, Xiaobo Wang
We successfully developed an induced pluripotent stem cell (iPSC) line, SYSUSHi001-A, from the peripheral blood mononuclear cells (PBMC) of a patient with Acute Myeloid Leukemia, harboring two genetic mutations (XPO1: c.591-4_591-3dupTT; PALB2: c.3296C > T; p.T1099M). This iPSC line was facilitated through the use of episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, and human miR-302. The SYSUSHi001-A
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Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene Stem Cell Res. (IF 1.2) Pub Date : 2024-02-22 Chunlai Gao, Xiaomeng Yang, Yanan Yang, Ning Liu, Yue Li, Yi Liu, Zhongtao Gai
Subcortical band heterotopia (SHB) is a rare severe brain developmental malformation caused by deficient neuronal migration during the development of cerebral cortex. Here, a human induced pluripotent stem cell (iPSCs) line was established from a 4-year-1-month-old girl with SHB carrying a heterozygous mutation (c.568A > G, p.K190E) in . The generated iPSC line showed the ability to differentiate into
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Establishing a human-induced pluripotent stem cell line (SMUSHi003-A) from a patient with Charcot-Marie-Tooth disease and focal segmental glomerulosclerosis Stem Cell Res. (IF 1.2) Pub Date : 2024-02-22 Qunjuan Lei, Wenyan Zhou, Ling Huang, Yu Zhang, Xueqing Xu, Xiaohua Guo
INF2 mutations cause Charcot-Marie-Tooth disease (CMT), and /or focal segmental glomerulosclerosis (FSGS) in an autosomal dominant inheritance mode, whose underlying mechanism remainsunclear. Here, we report the generation of an iPSC line from a female patient with CMT and FSGS. The iPSC line from the patient's PBMCscarried aheterozygous INF2 deletion mutation (c.315_323delGCGCGCCGT) within the conserved
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Generation of a DMD loss-of-function mutant human embryonic stem cell lines by CRISPR base editing Stem Cell Res. (IF 1.2) Pub Date : 2024-02-19 Hui Jin, Hong Fu, Jingjing Wang, Zhongming Wang, Jing Liu, Fengjie Han, Haijun Zheng, Youxu Jiang
Duchenne muscular dystrophy (DMD) is a fatal X-linked recessive disorder, which is caused mostly by frame-disrupting, out-of-frame variation in the dystrophin (DMD) gene. Loss-of- function mutations are the most common type of mutation in DMD, accounting for approximately 60–90% of all DMD variations. In this study, we used adenine base editing to generate a human embryonic stem cell line with splice-site
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Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9 Stem Cell Res. (IF 1.2) Pub Date : 2024-02-17 Sandra Ratnavadivel, Joline Dammeier, Anna Gaertner, Marcelo A. Szymanski de Toledo, Martin Zenke, Jan Gummert, Torsten Bloch Rasmussen, Nora Klinke, Kai Jürgens, Heiko Meyer, Achim Paululat, Hendrik Milting
TMEM43 (LUMA) is a ubiquitously expressed protein with unknown function. The protein is phylogenetically highly conserved and also found in Drosophila melanogaster (). TMEM43-p.S358L is a rare, fully penetrant mutation that leads to arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). To understand the function of the ARVC5-associated mutation it is first important to understand the function
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Generation of IPi001-A/B/C human induced pluripotent stem cell lines from healthy amniotic fluid cells Stem Cell Res. (IF 1.2) Pub Date : 2024-02-17 Mikaël Boullé, Alix Boucharlat, Ambre Leleu, Céline Banal, Aurélie Coussement, Marcel Hollenstein, Frank Yates, Nathalie Lefort, Fabrice Agou
Human induced Pluripotent Stem Cells (hiPSCs) represent an invaluable source of primary cells to investigate development, establish cell and disease models, provide material for regenerative medicine and allow more physiological high-content screenings. Here, we generated three healthy hiPSC control lines - IPi001-A/B/C - from primary amniotic fluid cells (AFCs), an infrequently used source of cells
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Establishment of a non-integrated iPSC line (SDQLCHi043-A) from a male infant with propionic acidemia carrying compound heterozygote mutations in PCCB gene Stem Cell Res. (IF 1.2) Pub Date : 2024-02-17 Zilong Li, Chen Liu, Hongmei Xin, Yuqiang Lv, Min Gao, Jian Ma, Ning Liu, Zhongtao Gai, Yi Liu
In this study, peripheral blood mononuclear cells were contributed from a male infant with propionic acidemia (PA) verified by clinical and genetic diagnosis, who inherited compound heterozygous mutations in the propionyl-CoA carboxylase subunit beta () gene. Here, this iPS was generated by non-integrated episomal vectors with , , , and . Also, this iPSC line exhibited the morphology of pluripotent
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An integration-free iPSC line SDQLCHi065-A from a patient with down syndrome, possessing a 47, XY,+21, inv(9)(p12q21),16qh + karyotype Stem Cell Res. (IF 1.2) Pub Date : 2024-02-17 Xue Zhang, Hongmei Xin, Yi Liu, Zhongtao Gai, Zilong Li
Down syndrome, a chromosomal aneuploidy genetic disorder, is primarily caused by trisomy 21 in all cells of a patient's body. In fewer cases, it can be attributed to a trisomy 21 chimera or trisomy 21 in specific cells within the body. We established an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells (PBMCs) of an 8-day-old boy with Down syndrome possessing a 47
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Establishment of iPS cell line (SDQLCHi061-A) from a patient with carbamoylphosphate synthetase I deficiency due to CPS1 mutation Stem Cell Res. (IF 1.2) Pub Date : 2024-02-17 Jingyun Guan, Li shen, Chen Liu, Yuqiang Lv, Haiyan Zhang, Yi Liu, Zhongtao Gai
The induced pluripotent stem cells (iPSCs) line was generated using peripheral blood mononuclear cells (PBMCs) from a patient with compound heterozygous mutation of c.2374A > G/p.M792V and c.3949C > T/p.R1317W in the CPS1 gene by non-integrating vectors. The expression of pluripotency markers, potential for in vitro trilineage differentiation and exhibiting normal karyotype were demonstrated in the
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Generation of induced pluripotent stem cell line, NIMHi009-A, from PBMCs of an adult healthy male Stem Cell Res. (IF 1.2) Pub Date : 2024-02-16 Gautham Arunachal, Madhura Milind Nimonkar, Kenchaiah Raghavendra, Ghati K Chetan, Bhupesh Mehta, Yogananda S. Markandeya
Human induced pluripotent stem cells provide an exceptional platform for studying pathogenesis . We, therefore, have generated and characterized human induced pluripotent stem cell (iPSC) line NIMHi009-A derived from peripheral blood mononuclear cells (PBMCs) of healthy adult male control for an epileptic patient carrying voltage gated sodium channel mutation, using Sendai virus-based reprogramming
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Establishment of FDHSi003-A, a human induced pluripotent stem cell (hiPSC) line with a mutation of RNF216 c.1948G > T Stem Cell Res. (IF 1.2) Pub Date : 2024-02-15 Wenqing Xu, Keliang Chen, Min Guo, Qiang Dong, Mei Cui
Gordon Holmes Syndrome (GDHS) is a hereditary neurodegenerative disease mainly associated with mutations of . We established a human induced pluripotent stem cell (hiPSC) line, FDHSi003-A, derived from PBMC of a patient baring a mutation of c.1948G > T, who shows typical symptoms of GDHS. The generated FDHSi003-A expresses pluripotency markers, displays a normal karyotype, and has the potency to differentiate
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Generation of CRISPR/Cas9 edited human induced pluripotent stem cell line carrying the heterozygous p.H695VfsX5 frameshift mutation in the exon 10 of the PKP2 gene Stem Cell Res. (IF 1.2) Pub Date : 2024-02-13 Bobin Pierre, Duboscq-Bidot Laëtitia, Blandin Camille, Perret Claire, Balse Elise, Gandjbakhch Estelle, Fontaine Vincent, Villard Eric
Loss-of-function mutations in the gene are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare cardiac disease associated with a poor prognosis. The search for therapeutics and a better understanding of the molecular mechanisms of the disease require the development of cellular modelling. Using CRISPR/Cas9, we generated a hiPSC line with heterozygous 7-bp deletion in exon
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Generation of an iPSC-line (BIONi010C-48) with restored P-glycoprotein functionality following transfection with the human MDR1 gene in the AAVS1 locus Stem Cell Res. (IF 1.2) Pub Date : 2024-02-13 Amanda Kongstad Redke Nielsen, Laura Lilieholm-Røngren, Benjamin Schmid, Bjørn Holst, Birger Brodin, Lasse Saaby
The human gene encodes the efflux transporter P-glycoprotein, which plays an important part of the blood–brain barrier function of brain microvascular endothelial cells (BMECs). Here, we report the generation of an iPSC line, where a construct of the human gene was inserted into the safe-site locus AAVS1. This iPSC line (BIONi010-C-48) shows functional expression of P-gp and can further be differentiated
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Generation and characterization of a human iPSC line and gene-corrected isogenic line derived from a patient with a CELF2 gene mutation Stem Cell Res. (IF 1.2) Pub Date : 2024-02-12 Michelle Hua, Laura Williams, Kaylan Burns, Shiying Liu, James Ellis, A. Micheil Innes, Melissa McPherson, Guang Yang
The identification of neurodevelopmental defects in a patient harboring a heterozygous missense variant (NM_006561.4, c.1517G > A, p.Arg506His) within the gene. Here, we describe the establishment of a patient-derived induced pluripotent stem cell (iPSC) line, alongside an isogenic gene-corrected iPSC line, achieved through CRISPR/Cas9 genome editing. These lines exhibit the expression of pluripotency
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Establishment of an iPSC line (BCHNDi001-A) from a patient with nicotinamide nucleotide repair system deficiency caused by biallelic NAXD mutations Stem Cell Res. (IF 1.2) Pub Date : 2024-02-12 Chaolong Xu, Ling Zhou, Huafang Jiang, Tianyu Song, Zhimei Liu, Xin Duan, Fang Fang
NAD(P)HX dehydratase () gene is one of the key enzymes encoding the nicotinamide nucleotide repair system, reportedly associated with Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 (PEBEL2). Here, we generated an induced pluripotent stem cell (iPSC) line from the dermal fibroblasts (HDFs) of a PEBEL2 patient who carried biallelic mutations, c.101_102delTA(p
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Generation of a human induced pluripotent stem cell line (FDCHi012-A) from a patient with DYRK1A-related intellectual disability syndrome carrying DYRK1A mutation (c.1024G > T) Stem Cell Res. (IF 1.2) Pub Date : 2024-02-11 Yanzhuang Ge, Yan Cheng, Tingting Yin, Xingsheng Peng, Zhongmeng Xiong, Bingbing Wu, Huijun Wang, Man Xiong, Wenhao Zhou
DYRK1A haploinsufficiency causes a neurodevelopmental syndrome termed DYRK1A-related intellectual disability syndrome which is associated with a range of symptoms including microcephaly, epileptic seizures, and autism spectrum disorder. Here, we generated an induced Pluripotent Stem Cell (iPSC) line with a de novo missense mutation (DYRKIA c.1024G > T) from the peripheral blood mononuclear cells of
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Generation of two induced pluripotent stem cell lines from healthy patients of African American ancestry Stem Cell Res. (IF 1.2) Pub Date : 2024-02-10 McKay Mullen, Ana Kojic, Christina Alamana, Gabriela Canel, Celine Lai, Joshua W. Knowles, Joseph C. Wu
Stem cells are a resourceful tool for investigating cardiovascular disease in the context of race and gender. Once derived from blood or skin cells, the reprogrammed induced pluripotent stem cells (iPSCs) adopt an embryonic-like pluripotent state, enabling researchers to develop drug screening or disease modeling platforms. Here, we generated two iPSC lines from peripheral blood mononuclear cells (PBMCs)
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Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich’s ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene Stem Cell Res. (IF 1.2) Pub Date : 2024-02-10 Istaq Ahmad, Himanshi Kapoor, Achal Kumar Srivastava, Mohammed Faruq
Friedreich’s ataxia is a neurodegenerative disorder caused by the hyper expansion of (GAA-TTC)n triplet repeats in the first intron of the FXN gene. Here, we generated iPSC lines from two individuals with FRDA, both of whom have homozygous GAA repeat expansions in the first intron of FXN gene. Both iPSC lines demonstrated characteristics of pluripotency, including expression of pluripotency markers
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Generation of two iPSC lines from Mowat-Wilson syndrome patients carrying heterozygous ZEB2 mutations Stem Cell Res. (IF 1.2) Pub Date : 2024-02-09 Giulia Gorrieri, Serena Tamburro, Simona Baldassari, Sara Guerrisi, Federico Zara, Emilia Ricci, Duccio Maria Cordelli, Paolo Scudieri, Ilaria Musante
is a protein-coding gene belonging to a very restricted family of transcription factors. ZEB2 acts mainly as a transcription repressor, is expressed in various tissues and its role is fundamental for the correct development of the nervous system. The best-known clinical picture associated with mutations is Mowat-Wilson syndrome, caused mostly by haploinsufficiency and characterized by possible multi-organ
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Generation of an induced pluripotent stem cell line from patient with atrial fibrillation with KCNQ1 p.Ser209Pro mutation Stem Cell Res. (IF 1.2) Pub Date : 2024-02-08 YunGuang Cen, TianCheng Zhou, SongSheng Chen, ZhanYu Deng, JianShuo Wang, Ning Ma, ShaoHeng Zhang
Gain-of-function mutations in the KCNQ1 gene can cause atrial fibrillation. In this study, we generated an induced stem cell line (GRCHJUi001) from one member of an atrial fibrillation family line, whom had heterozygous mutation in the KCNQ1 gene c.625 T > C (p.Ser209Pro), and the cell line showed maintenance of stem cells characterized by morphology, normal karyotype, and pluripotency.
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Establishment of induced pluripotent stem cell lines derived from Parkinson’s disease Mexican patients: A sporadic (UNAMi002-A) and a familial (UNAMi003-A) case carrying a mutation in PINK1 Stem Cell Res. (IF 1.2) Pub Date : 2024-02-08 Xóchitl Flores-Ponce, Adolfo López-Ornelas, Itzel Escobedo-Avila, Mayela Rodríguez-Violante, David Dávila-Ortiz de Montellano, Amín Cervantes-Arriaga, Nancy Monroy-Jaramillo, Aurelio Campos-Romo, Iván Velasco
Parkinson’s disease (PD) is characterized by the progressive loss of dopaminergic neurons in the , which results in a prominent reduction of striatal dopamine levels leading to motor alterations. The mechanisms underlying neurodegeneration in PD remain unknown. Here, we generated an induced pluripotent stem cell line from dermal fibroblasts of a Mexican patient diagnosed with sporadic PD (UNAMi002-A)
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Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene Stem Cell Res. (IF 1.2) Pub Date : 2024-02-08 Pierre Joanne, Yeranuhi Hovhannisyan, Alexandre Simon, Gaëlle Revet, Romain Diot, Gabriel Friob, Denisa Calin, Zhenlin Li, Anthony Béhin, Karim Wahbi, Gérard Tachdjian, Onnik Agbulut
Myofibrillar myopathy (MFM) is a rare genetic disorder characterized by muscular dystrophy that is often associated with cardiac disease. This disease is caused by mutations in several genes, among them (encoding desmin) is the most frequently affected. Peripheral blood mononuclear cells from 5 different MFM patients with different mutations were reprogrammed into induced pluripotent stem cells (IPSC)
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Generation and characterization of PBMCs-derived human induced pluripotent stem cell (iPSC) line SDQLCHi055-A from a patient with NEDSDV carrying a heterozygote mutation in the CTNNB1 gene Stem Cell Res. (IF 1.2) Pub Date : 2024-02-08 Yanan Yang, Chen Liu, Ning Liu, Xiaomeng Yang, Yi Liu, Zhongtao Gai
Neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV, #615075), a rare autosomal dominant genetic disorder caused by heterozygous mutation in the CTNNB1 gene, is characterized by global developmental delay, impaired intellectual development, axial hypotonia, and dysmorphic craniofacial features with microcephaly. Here, we established an iPSC line (SDQLCHi055-A) from a patient
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Generation of iPSC lines derived from skin fibroblasts of two healthy controls using non-transmissible form of Sendai Virus Stem Cell Res. (IF 1.2) Pub Date : 2024-02-08 A. Orsi, V. Serpieri, C. Mazzotta, M. Cotta Ramusino, E. Rossi, S. Cerri, E.M. Valente
We established two iPSC lines starting from skin fibroblasts of two healthy individuals using Sendai-virus-based technique. The obtained iPSCs were characterized showing same STR profile as starting fibroblasts, normal karyotype, loss of stemness vectors, expression of stemness markers, both through real-time PCR and immunofluorescence, (OCT4, SOX2, TRA-1–60, NANOG and SSEA4) and in vitro differentiation