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Generation and characterization of an induced pluripotent stem cell line SDQLCHi018-A from a congenital myasthenic syndrome patient carrying compound heterozygote mutations in RAPSN gene Stem Cell Res. (IF 4.489) Pub Date : 2021-01-08 Haiyan Zhang; Huawei Zhang; Yanyan Ma; Yuqiang Lv; Zhongtao Gai; Yi Liu
Mutations in RAPSN are an important cause of congenital myasthenic syndrome (CMS). In this study, we generated an induced pluripotent stem cell line (iPSC) derived from a 14-day-old male CMS patient carrying compound heterozygote mutations (c.532-2A > G and c.264C > A/p.Asn88Lys) in RAPSN gene. The established iPSC line harboring the original mutations, possessing a normal karyotype, is able to differentiate
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Generation of a human induced pluripotent stem cell line (SIAISi011-A) from a 61-year-old Chinese Han healthy female donor Stem Cell Res. (IF 4.489) Pub Date : 2021-01-12 Wenxin Zhang; Yishi Hua; Weihao Di; Jinghui Guo; Qiuting Dai; Jian Zhao; Bei Zhang; Ying Wang
Peripheral blood mononuclear cells (PBMC) were donated by a healthy 61-year old Chinese Han female. Human OKSM (OCT3/4, KLF4 SOX2, and c-MYC) transcription factors were used to reprogram her PBMCs with the non-integrating episomal vector system. Immunocytochemistry for pluripotency makers confirmed the pluripotency of transgene-free iPSCs and their ability to differentiate spontaneously three germ
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Establishment of a human induced pluripotent stem cell line (SDQLCHi037-A) from a patient with Alagille syndrome carrying heterozygous mutation in JAG1 gene Stem Cell Res. (IF 4.489) Pub Date : 2021-01-08 Bin Wang; Lu Yang; Yue Li; Min Gao; Haiyan Zhang; Xiaomeng Yang; Jingyun Guan; Yi Liu; Zhongtao Gai
Alagille syndrome is a complex multisystem autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. We established an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells of a 3-month-old boy with Alagille syndrome carrying a heterozygous mutation c.1615C > T (p.Q539X) in JAG1 gene. This iPSC line was free of exogenous gene, expressed pluripotency
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Generation of three iPSC cell lines (SIAISi006-A, SIAISi007-A and SIAISi008-A) from a 66-year-old Alzheimer’s disease (AD) patient and her two unaffected children from Chinese Han population Stem Cell Res. (IF 4.489) Pub Date : 2021-01-12 Wenxin Zhang; Qiuting Dai; Yishi Hua; Weihao Di; Jinghui Guo; Jian Zhao; Yulei Deng; Ying Wang
A 66-year-old Chinese Han Alzheimer's Disease (AD) female patient and her two unaffected children donated their Peripheral blood mononuclear cells (PBMC). Non-integrating episomal vector system were used to reprogram their PBMCs with human OKSM (OCT3/4, KLF4, SOX2, and c-MYC) transcription factors. Immunocytochemistry for pluripotency makers confirmed the pluripotency of transgene-free iPSCs. Pluripotency
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Generation of an urine-derived induced pluripotent stem cell line from a 6-year old X-linked adrenoleukodystrophy (X-ALD) patient Stem Cell Res. (IF 4.489) Pub Date : 2021-01-12 Long Wang; Beibei Gao; Xuming Mo; Xiaoling Guo; Jinyu Huang
The gene mutations of the ATP-binding-cassette transporter subfamily D member 1 (ABCD1) can lead to the inherited neuro-metabolic malfunction disease X-linked adrenoleukodystrophy (X-ALD). Human urine cells from a 6-year-old male X-ALD patient harboring a ABCD1 gene frameshift (c.2013insA, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi014-A with Sendai virus reprogramming
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Generation of a DKK1 homozygous knockout human embryonic stem cell line WAe001-A-21 using CRISPR/Cas9 Stem Cell Res. (IF 4.489) Pub Date : 2021-01-08 Zhen Yang; Fang Yuan; Ning Wang; Yanli Liu; Jiaye Zhang; Ruzhi Wei; FeiMa Wu; Yuhang Wu; Kai You; Yan Chen; Fan Yang; Yin-xiong Li
Dickkopf1 (DKK1) is a secreted inhibitor for the Wnt signalling, which is involved in cell proliferation, tissue regeneration and embryonic development. Using CRISPR/Cas9 editing, we established a homozygous mutant DKK1 human embryonic stem cell line (WAe001-A-21). It has a 41 bp deletion in exon 2 of DKK1, leading to its coding frame shift. The WAe001-A-21 cell line maintains a normal karyotype, pluripotency
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Electrophysiological Evaluation of Human Induced Pluripotent Stem Cell- Derived Cardiomyocytes Obtained by Different Methods Stem Cell Res. (IF 4.489) Pub Date : 2021-01-15 Chandra Prajapati; Marisa Ojala; Henna Lappi; Katriina Aalto-Setälä; Mari Pekkanen-Mattila
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Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A) Stem Cell Res. (IF 4.489) Pub Date : 2021-01-15 Tatiana Rabinski; Sivan Sagiv; Moran Hausman-Kedem; Aviva Fattal-Valevski; Moran Rubinstein; Karen B. Avraham; Gad D. Vatine
The GLUN2D subunit of the N-methyl D-aspartate receptor (NMDAR) is encoded by the GRIN2D gene. Mutations in GRIN2D have been associated with neurodevelopmental and epileptic encephalopathies. Access to patient samples harboring mutations in GRIN2D can contribute to understanding the role of NMDAR in neuronal development and function. We report the generation of induced pluripotent stem cell (iPSC)
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Generation of an induced pluripotent stem cell line ZZUNEUi019-A from a five-year-old Chinese girl with Susceptibility to idiopathic generalized epilepsy-15 Stem Cell Res. (IF 4.489) Pub Date : 2021-01-15 Wei Dong; Mingwei Huang; Qiang Luo
Susceptibility to idiopathic generalized epilepsy-15 (EIG15) is an autosomal dominant seizure disorder characterized by onset of variable types of seizures in the first decade, caused by heterozygous mutations in the RORB gene encoding the retinoid-related orphan receptor β. We established an induced pluripotent stem cell (iPSC) line from PBMCs collected from a five-year-old female patient with EIG15
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Generation and validation of a common marmoset embryonic stem cell line ActiCre-B1 that ubiquitously expresses a tamoxifen-inducible Cre-driver Stem Cell Res. (IF 4.489) Pub Date : 2021-01-08 Sho Yoshimatsu; Kanae Ohtsu; Tsukika Sato; Masafumi Yamamoto; Erika Sasaki; Seiji Shiozawa; Hideyuki Okano
We previously reported the efficient targeted introduction of transgenes into the genomic DNA of the common marmoset (Callithrix jacchus) using CRISPR-Cas9. In this study, we generated a marmoset embryonic stem cell (ESC) line that ubiquitously expresses the tamoxifen-inducible Cre-driver ERT2CreERT2. We validated the pluripotency of the ESC line and also successfully demonstrated the temporal control
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PBMC-derived integration-free iPSCs line SDQLCHi039-A from a patient with X-linked agammaglobulinemia carrying a novel 9-bp in-frame deletion in BTK gene Stem Cell Res. (IF 4.489) Pub Date : 2021-01-08 Ning Liu; Xiaomeng Yang; Sulan Wang; Rui Dong; Yue Li; Yuqiang Lv; Yi Liu; Zhongtao Gai
X-linked agammaglobulinemia (XLA, OMIM #300755) is one of the most common pediatric primary immunodeficiencies characterized by failure to produce mature B lymphocytes and hypogammaglobulinemia, caused by mutation of the gene encoding Bruton's tyrosine kinase (BTK, OMIM *300300), a key regulator in B-cell development. Patients suffering XLA are prone to recurrent bacterial infection. We established
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Establishment of an iPSC line (CSUXHi003-A) from a patient with Waardenburg syndrome type Ⅱ caused by a MITF mutation Stem Cell Res. (IF 4.489) Pub Date : 2021-01-09 Jie Wen; Jian Song; Chufeng He; Jie Ling; Yalan Liu; Hongsheng Chen; Wei Gong; Lingyun Mei; Yong Feng
Waardenburg syndrome (WS) is a genetic disorder characterized by sensorineural deafness. It has a variable presentation of pigmentation defects. Here, we generated an induced pluripotent stem cell (iPSC) line using episomal plasmid vectors from the fibroblasts of a 4-year-old boy affected with WS type II, caused by a novel mutation in microphthalmia-associated transcription factor (MITF) (NM_000248
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A heterozygous MYH7 (c. 2156G > A) mutant human induced pluripotent stem cell line (ZZUNEUi020-A) generated from a patient with hypertrophic cardiomyopathy Stem Cell Res. (IF 4.489) Pub Date : 2021-01-08 Xiaowei Li; Wanrong Fu; Guangli Guo; Mengduan Liu; Wenting Du; Jing Zhao; Yangyang Liu; Lu Wang; Jianzeng Dong; Xiaoyan Zhao
Hypertrophic cardiomyopathy (HCM) is a heterogeneous myocardial disease often caused by sarcomeric gene mutations. MYH7 is one of the most common genes associated with HCM. In this study, we generated a human induced pluripotent stem cell (iPSC) line ZZUNEUi020-A from peripheral blood mononuclear cells of a female HCM patient with the p. R719Q (c. 2156G > A) mutation in MYH7. This cell line expressed
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SREBP1 suppresses the differentiation and epithelial function of hiPSC-derived endothelial cells by inhibiting the microRNA199b-5p pathway Stem Cell Res. (IF 4.489) Pub Date : 2021-01-13 Xin Qian; Xiangjiang Guo; Qihong Ni; Han Wang; Meng Ye; Lan Zhang
Human induced pluripotent stem cell (hiPSC)-derived endothelial cell (hiPSC-EC) transplantation is a promising therapy for treating peripheral artery disease (PAD). However, the poor differentiation of hiPSCs limits their clinical application. Therefore, finding key factors that regulate cellular differentiation is crucial for improving the therapeutic efficacy of hiPSC-EC transplantation. Sterol regulatory
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Generation of an induced pluripotent stem cell line, FJMUUHi001-A, from a hereditary Parkinson's disease patient with homozygous mutation of c.189dupA in PARK7 Stem Cell Res. (IF 4.489) Pub Date : 2021-01-13 Zhi-ting Chen; Zhen-hua Zhao; Li-na Chen; Fei Fan; Guo-en Cai; Hui-dan Weng; Ying-qing Wang; Lian-ming Liao; Xiao-chun Chen; En Huang; Qin-yong Ye
PARK7 mutations are accountable for the inherited Parkinson's disease. An induced pluripotent stem cell (iPSC) line FJMUUHi001-A was generated by expressing five reprogramming factors, OCT3/4, SOX2, c-MYC, KLF4 and BCL-XL, in peripheral blood mononuclear cells from a 32-year old patient carrying a homozygous mutation of c.189dupA in PARK7. The iPSCs with a normal karyotype had the abilities to differentiate
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Establishment of patient-specific induced pluripotent stem cell line SDUBMSi009-A from a patient with X-linked Lowe syndrome Stem Cell Res. (IF 4.489) Pub Date : 2021-01-13 Xiaolin Liu; Yong Liu; Yanyan Ma; Yaoqin Gong; Qiji Liu; Wenjie Sun; Hui Guo
X-linked Lowe syndrome is a multisystem disorder showing major abnormalities in the eyes, kidneys and central nervous system. OCRL gene, which encodes an inositol polyphosphate 5-phosphatase, is associated with Lowe syndrome when mutated. Here we report the establishment of SDUBMSi009-A, an induced pluripotent stem cell line derived from patient carrying splicing variant (c. 940-11G>A) of OCRL gene
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Reprogramming of a human induced pluripotent stem cell line from a Marfan syndrome patient harboring a heterozygous mutation of c.2939G > A in FBN1 gene Stem Cell Res. (IF 4.489) Pub Date : 2021-01-08 Zhiping Qin; Liqiang Sun; Xue Sun; Xinxuan Gao; Hang Su
Marfan syndrome (MFS) is a connective-tissue disorder caused mainly by heterozygous mutations in the FBN1 gene that encodes fibrillin-1. In this study, human induced pluripotent stem cell (iPSC) line ZZUSAHi003-A was generated from peripheral blood mononuclear cells (PBMCs) isolated from a female patient with MFS using non-integrative Sendai virus. The iPSC line carried the FBN1 gene mutation, showed
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The effects of novel coronavirus (SARS-CoV-2) infection on cardiovascular diseases and cardiopulmonary injuries Stem Cell Res. (IF 4.489) Pub Date : 2021-01-12 Ni Li; Linwen Zhu; Lebo Sun; Guofeng Shao
COVID-19 caused by a novel coronavirus named SARS-CoV-2, can elites severe acute respiratory syndrome, severe lung injury, cardiac injury, and even death and became a worldwide pandemic. SARS-CoV-2 infection may result in cardiac injury via several mechanisms, including the expression of angiotensin-converting enzyme 2 (ACE2) receptor and leading to a cytokine storm, can elicit an exaggerated host
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Generation of a Crigler-Najjar Syndrome Type I patient-derived induced pluripotent stem cell line CNS705 (HHUUKDi005-A) Stem Cell Res. (IF 4.489) Pub Date : 2021-01-12 Nina Graffmann; Soraia Martins; Tijana Ljubikj; Julie Carole Matte; Martina Bohndorf; Wasco Wruck; James Adjaye
Human fibroblasts cells from a Crigler-Najjar Syndrome (CNS) patient were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids expressing OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28. The derived CNS705-iPSC line is homozygous for the UGT1A1 c.877_890delTACATTAATGCTTCinsA mutation. Pluripotency was confirmed by the expression of associated
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Control of mesenchymal cell fate via application of FGF-8b in vitro Stem Cell Res. (IF 4.489) Pub Date : 2021-01-07 Takayoshi Otsuka; Paulos Y. Mengsteab; Cato T. Laurencin
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Generation of induced pluripotent stem cell lines deficient for Cadherin 13 (UKWMPi002-A-1/B/C) Bassociated with neurodevelopmental disorders using CRISPR/Cas9 Stem Cell Res. (IF 4.489) Pub Date : 2021-01-11 Maria Rosaria Vitale; Johanna Eva Maria Zöller; Charline Jansch; Anna Janz; Frank Edenhofer; Eva Klopocki; Daniel van den Hove; Tim Vanmierlo; Olga Rivero; Nael Nadif Kasri; Georg Christoph Ziegler; Klaus-Peter Lesch
Fibroblasts isolated from a skin biopsy of a healthy 46-year-old female were infected with Sendai virus containing the Yamanaka factors to produce transgene-free human induced pluripotent stem cells (iPSCs). CRISPR/Cas9 was used to generate isogenic cell lines with a gene dose-dependent deficiency of CDH13, a risk gene associated with neurodevelopmental and psychiatric disorders. Thereby, a heterozygous
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Generation of two induced pluripotent stem cell lines from a patient with recessive inherited retinal disease caused by compound heterozygous mutations in SNRNP200 Stem Cell Res. (IF 4.489) Pub Date : 2021-01-05 Dan Zhang; Samuel McLenachan; Shang-Chih Chen; Khine Zaw; Yaqin Alziyadat; Xiao Zhang; Tina M. Lamey; Jennifer A. Thompson; Terri L. McLaren; Carla Mellough; John N. De Roach; Fred K. Chen
The human induced pluripotent stem cell (iPSC) lines LEIi015-A and LEIi015-B were derived from a patient with inherited retinal disease caused by compound heterozygous mutations in the SNRNP200 gene (c.[1792C>T];[3341T>C]). Dermal fibroblasts were transfected with episomal plasmids carrying transgenes encoding OCT4, SOX2, KLF4, L-MYC, LIN28, mir302/367 microRNA and shRNA for P53. The clonal iPSC lines
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An induced pluripotent stem cell line (GZHMCi003-A) derived from a fetus with exon 3 heterozygous deletion in RUNX2 gene causing cleidocranial dysplasia Stem Cell Res. (IF 4.489) Pub Date : 2021-01-09 Min Chen; Sheng Mou Lin; Nan Li; Yingting Li; Yufan Li; Luting Zhang
Cleidocranial dysplasia (CCD; MIM #119600) is an autosomal dominant genetic disorder caused by heterozygous loss-of-function mutation of the RUNX2 gene, which is important in the differentiation of osteoblasts and maturation of chondrocytes. In this study, we generated an induced pluripotent stem cell line GZHMCi003-A derived from umbilical cord blood mononuclear cells (UCBMCs) of a fetus with heterozygous
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Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning Syndrom (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G) Stem Cell Res. (IF 4.489) Pub Date : 2021-01-08 Xiaoling Guo; Xufei Zhang; Linlin Wang; Lingyun He; Yinjuan Ding; Huihui Chen; Dexuan Wang; Xing Rong; Xian Shen; Jian Lin; Maoping Chu
The mutations of polyglutamine binding protein 1 gene (PQBP1) can lead to the rare inherited X-linked Renpenning syndrome (X-RSY). Here, an induced pluripotent stem cell (iPSC) line WMUi017-A was generated through reprogramming the urine cells of a 5-year-old male X-RSY patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G) using the commercial Sendai virus reprogramming system. The established
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Establishment human induced pluripotent stem cell line from idiopathic non-familial Parkinson’s disease patient using self-replicating RNA vector Stem Cell Res. (IF 4.489) Pub Date : 2020-12-24 Harry Murti; Kelvin Pieknell; Indra Bachtiar; Siska Yuliana Sari; Yanuar Alan Sulistio; Sang-Hun Lee
Induced pluripotent stem cell (iPSC) line HUi002-A was reprogrammed from skin fibroblasts via non-integrating, virus free self-replicating RNA. Skin fibroblasts from a 53-year-old male Caucasian, non-familial Parkinson's disease patient, idiopathic (clinical summary confirmed Parkinson's disease) was obtained from the Coriell Institute (AG20442). Generated iPSCs were characterized and pluripotency
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Generation of iPSC lines (KAUSTi011-A, KAUSTi011-B) from a Saudi patient with epileptic encephalopathy carrying homozygous mutation in the GLP1R gene Stem Cell Res. (IF 4.489) Pub Date : 2020-12-28 Maryam Alowaysi; Veronica Astro; Elisabetta Fiacco; Fatema Alzahrani; Fowzan S. Alkuraya; Antonio Adamo
Glucagon-like peptide-1 receptor (GLP1R) is a seven-transmembrane-spanning helices membrane protein expressed in multiple human tissues including pancreatic islets, lung, brain, heart and central nervous system (CNS). GLP1R agonists are commonly used as antidiabetic drugs, but a neuroprotective function in neurodegenerative disorders is emerging. Here, we established two iPSC lines from a patient harboring
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Generation of a TBX5 homozygous knockout embryonic stem cell line (WAe009-A-45) by CRISPR/Cas9 editing Stem Cell Res. (IF 4.489) Pub Date : 2021-01-06 Tiantian Zhao; Rui Bai; Fujian Wu; Wen-Jing Lu; Jun Zhang
Holt-Oram syndrome (HOS), which is caused by genetic changes in the TBX5 gene, affects the hands and heart. HOS patients have heart defects, including atrial septal defects (ASD), ventricular septal defects (VSD) and heart conduction disease. Here, we generated a homozygous TBX5 knockout human embryonic stem cell (hESC) line (TBX5-KO) using a CRISPR/Cas9 system. The TBX5-KO maintained stem cell like
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Generation of a homozygous COX6A2 knockout human embryonic stem cell line (WAe009-A-47) via an epiCRISPR/Cas9 system Stem Cell Res. (IF 4.489) Pub Date : 2021-01-04 Chengwen Hang; Yuanxiu Song; Fujian Wu; Tao Dong; Mengqi Jiang; Amina Saleem; Siyao Zhang; Yun Chang; Wenjing Lu; Ming Cui
COX6A2 protein is a structural subunit of Complex IV (CIV/Cytochrome c oxidase/COX) in the mitochondrial respiratory chain. It is mainly expressed in the heart and skeletal muscle, also in some interneurons, regulating the assembly and catalytic activity of CIV. Its mutations can lead to COX deficiency, causing human myopathies, and maybe a potential cause of neurological abnormalities. Here, we used
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Generation of a hiPSC line ZZUNEUi012-A from a healthy female individual Stem Cell Res. (IF 4.489) Pub Date : 2020-12-26 Mengyu Wang; Yongjuan Ruan; Xiaoxu Tian; Yangyang Liu; Mengduan Liu; Wanrong Fu; Wenting Du; Jing Zhao; Liang Hu; Xiaowei Li; Xiaoyan Zhao; Jianzeng Dong
Induced pluripotent stem cells (iPSCs) have differentiation potential into different somatic cell types in vitro and are a useful tool to investigate pathomechanistic and cellular processes. In this study, we generated human induced pluripotent stem cells (iPSC) ZZUNEUi012-A from an apparently healthy female individual using an integration-free reprogramming method. The generated hiPSC line was pluripotent
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Generation of Two Induced Pluripotent Stem Cell Lines SPPHi001-A and SPPHi002-A from a Huntington’s Disease Family of Southwestern China Stem Cell Res. (IF 4.489) Pub Date : 2021-01-04 Bin Li; Fang Ye; Li Chen; Xiangyu Yang; Ji Zhang; Yun Luo; Jie Xu; Yongjie Luo; Su Wang
The Huntington's disease (HD) is still a devastating neurological disease without a specific cure. In this report, the peripheral blood mononuclear cells (PBMCs) from two members of a HD family from Southwestern China were reprogrammed into hiPSC lines by an episomal and non-integrating Sendai virus delivery method. The induced HD-hiPSC lines, SPPHi001-A and SPPHi002-A, were expanded and validated
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Generation of two human iPSC lines, FINCBi002-A and FINCBi003-A, carrying heteroplasmic macrodeletion of mitochondrial DNA causing Pearson’s syndrome Stem Cell Res. (IF 4.489) Pub Date : 2021-01-04 Camille Peron; Roberta Mauceri; Angelo Iannielli; Andrea Cavaliere; Andrea Legati; Ambra Rizzo; Francesca L. Sciacca; Vania Broccoli; Valeria Tiranti
Pearson marrow pancreas syndrome (PMPS) is a sporadic mitochondrial disease, resulting from the clonal expansion of a mutated mitochondrial DNA (mtDNA) molecule bearing a macro-deletion, and therefore missing essential genetic information. PMPS is characterized by the presence of deleted (Δ) mtDNA that co-exist with the presence of a variable amount of wild-type mtDNA, a condition termed heteroplasmy
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Generation of an induced pluripotential stem cell (iPSC) line from a patient with hypertrophic cardiomyopathy carrying myosin binding protein C (MYBPC3) c.3369–3370 insC mutation Stem Cell Res. (IF 4.489) Pub Date : 2020-12-26 Jingjun Jin; Lihong Lu; Jinyan Chen; Kun Wang; Junyong Han; Shijie Xue; Guoxing Weng
Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes abnormally thick making it difficult for the heart to pump blood. In this study an induced pluripotent stem cells (iPSC) line was derived from peripheral blood mononuclear cells of a 62-year-old male hypertrophic cardiomyopathy (HCM) patient with the mutation of heterozygous pathogenic myosin binding protein C (MYBPC3)
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Generation of two induced pluripotent stem cell (iPSC) lines from an ALS patient with simultaneous mutations in KIF5A and MATR3 genes Stem Cell Res. (IF 4.489) Pub Date : 2020-12-24 David X. Medina; Ashley Boehringer; Marissa Dominick; Ileana Lorenzini; Sara Saez-Atienzar; Erik P. Pioro; Rita Sattler; Bryan Traynor; Robert Bowser
Fibroblasts from an amyotrophic lateral sclerosis patient with simultaneous mutations in the MATR3 gene and KIF5A gene were isolated and reprogrammed into induced pluripotent stem cells via a non-integrating Sendai viral vector. The generated iPSC clones demonstrated normal karyotype, expression of pluripotency markers, and the capacity to differentiate into three germ layers. The unique presence of
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Studying leukemia stem cell properties and vulnerabilities with human iPSCs Stem Cell Res. (IF 4.489) Pub Date : 2020-12-10 Nikolaos Spyrou; Eirini P. Papapetrou
The reprogramming of cancer cells into induced pluripotent stem cells (iPSCs) can capture entire cancer genomes, and thus create genetically faithful models of human cancers. By providing stringent genetically clonal conditions, iPSC modeling can also unveil non-genetic sources of cancer heterogeneity and provide a unique opportunity to study them separately from genetic sources, as we recently showed
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An induced pluripotent stem cell line (SDQLCHi033-A) derived from a patient with maple syrup urine disease type Ib carrying a homozygous mutation in BCKDHB gene Stem Cell Res. (IF 4.489) Pub Date : 2020-12-28 Bin Wang; Chen Liu; Haiyan Zhang; Zhongtao Gai; Yi Liu
Maple syrup urine disease (MSUD) type Ib is a subclass of MSUD (248600) which is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex. An induced pluripotent stem cell (iPSC) line was generated from an 11-day-old girl diagnosed with maple syrup urine disease type Ib and carrying a novel homozygous mutation of c.1097C>A (p.P366Q) in BCKDHB gene. This
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Neutrophils generated in vitro from hematopoietic stem cells isolated from Apheresis samples and Umbilical cord blood form Neutrophil extracellular traps Stem Cell Res. (IF 4.489) Pub Date : 2020-12-31 Rutuja Kuhikar; Nikhat Khan; Satyajeet P. Khare; Amit Fulzele; Sameer Melinkeri; Vaijayanti Kale; Lalita Limaye
Neutrophils release neutrophil extracellular traps (NET) comprising of decondensed chromatin that immobilizes and kills pathogens. In vitro generation of neutrophils on a large scale from hematopoietic stem cells (HSCs) may be a useful strategy for treating neutropenic patients in future, though it is not in clinical practice yet. Microbial infections lead to major cause of morbidity and mortality
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Generation of a human embryonic stem cell (WAe001-A-47) with hVGLL4 doxycyclin-inducible expression by the PiggyBac transposon system Stem Cell Res. (IF 4.489) Pub Date : 2020-12-24 Yingyi Quan; Tianci Zhang; Huan Zhang; Jiwen Yang; Peifeng Jin; Jianshe Ma; Yanyan Fan; Junming Fan; Xiaofang Fan; Yongsheng Gong; Ming Li; Yongyu Wang
VGLL4 is a new component of the Hippo pathway and bind TEADs to compete with YAP, so as to inhibit tumor progression, but its role in stem cell and organ regeneration remains unclear. Using the PiggyBac transposon system, we generated a VGLL4 doxycycline-inducible expression human embryonic stem cell line (WAe001-A-47). The established hESC line retains its normal morphology and pluripotency markers
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Generation of an IPSC line from a patient with hypertrophic cardiomyopathy carrying a mutation in MYH6 gene Stem Cell Res. (IF 4.489) Pub Date : 2020-12-24 Lu Wang; Xiaowei Li; Wanrong Fu; Shuai Zhang; Wenting Du; Jing Zhao; Mengduan Liu; Mengyu Wang; Yangyang Liu; Liang Hu; Zhongren Ding; Ling Li; Xiaoyan Zhao; Jianzeng Dong
An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells (PBMCs) of a 41-year-old male patient with hypertrophic cardiomyopathy who carries a G3755A heterozygote mutation in the MYH6 gene. The generated iPSC line expressed pluripotency markers, exhibited a normal karyotype, presented the specific mutation, and demonstrated differentiation potential into three
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Generation of PRMT6 homozygous knockout human embryonic stem cell lines Stem Cell Res. (IF 4.489) Pub Date : 2020-12-28 Tuo Li; Wei Jin; Yi He; Zhongjun Zhou
PRMT6 is a type I protein arginine methyltransferase (PRMT) which participates in diverse biological processes. To facilitate the understanding of PRMT6 functions, we generated two independent homozygous PRMT6 knockout Human ESCs clones, PRMT6-KO-10 and PRMT6-KO-24, in human WA01 ES cells by CRISPR/Cas9. The pluripotency of both clones was verified by the presence of pluripotent markers, normal karyotypes
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Generation of two human ISG15 knockout iPSC clones using CRISPR/Cas9 editing Stem Cell Res. (IF 4.489) Pub Date : 2020-12-22 S. Merkert; M.-C. Jaboreck; L. Engels; M.N.H. Malik; G. Göhring; F. Pessler; U. Martin; R. Olmer
Interferon stimulated gene 15 (ISG15) is one of the most highly upregulated proteins in response to viral infection and is involved in numerous pathways with multiple mechanisms of actions. ISG15 deficiency has been reported to induce type I interferonopathy owing to defective negative regulation of IFN-I signalling as well as enhanced antiviral protection. Here, we have generated ISG15 knockout clones
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A Quantitative Hematopoietic Stem Cell Reconstitution Protocol: Accounting for Recipient Variability, Tissue Distribution and Cell Half-Lives Stem Cell Res. (IF 4.489) Pub Date : 2020-12-29 Smrithi Rajendiran; Scott W. Boyer; E. Camilla Forsberg
Hematopoietic stem and progenitor cell (HSPC) transplantation is the paradigm for stem cell therapies. The protocol described here enables quantitative assessment of the body-wide HSPC reconstitution of different mature hematopoietic cells in mice based on their presence in circulating blood. The method determines donor-derived mature cell populations per mouse, over time, by quantitatively obtaining
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Combined transcriptomic and phosphoproteomic analysis of BMP4 signaling in human embryonic stem cells Stem Cell Res. (IF 4.489) Pub Date : 2020-12-18 Angelos Papadopoulos; Varvara Chalmantzi; Olga Mikhaylichenko; Marko Hyvönen; Dimitris Stellas; Aditi Kanhere; John Heath; Debbie L. Cunningham; Theodore Fotsis; Carol Murphy
Human embryonic stem cells (hESCs) are an invaluable tool in the fields of embryology and regenerative medicine. Activin A and BMP4 are well-characterised growth factors implicated in pluripotency and differentiation. In the current study, hESCs are cultured in a modified version of mTeSR1, where low concentrations of Activin A substitute for TGFβ. This culture system is further used to investigate
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Induced pluripotent stem cell line (ZZUNEUi011-A) derived from peripheral blood mononuclear cells (PBMCs) of a healthy 27-year-old female individual Stem Cell Res. (IF 4.489) Pub Date : 2020-12-24 Wanrong Fu; Mengyu Wang; Yangyang Liu; Mengduan Liu; Lu Wang; Liang Hu; Xiaoyan Zhao; Zhongren Ding; Xiaowei Li; Jianzeng Dong
In this study, we report a human induced pluripotent stem cell (iPSC) line from a healthy 27-year-old female individual using non-integrative Sendai viral reprogramming technology. The cell line expresses stemness markers, exhibits a normal female karyotype, and can differentiate into three germ layers in vivo. This iPSC line from a healthy individual provides a control group for studying disease mechanisms
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Establishment of a non-integrate iPS cell line (SDQLCHi023-A) from a patient with Xq25 microduplication syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25 Stem Cell Res. (IF 4.489) Pub Date : 2020-12-28 Xiaomeng Yang; Chunhong Duan; Haiyan Zhang; Yue Li; Jingyun Guan; Dong Wang; Yuqiang Lv; Zhongtao Gai; Yi Liu
Xq25 microduplication syndrome is a recognized syndrome presenting intellectual disability and distinctive facial appearance. We generated an induced pluripotent stem cell (iPSC) line from peripheral blood mononuclear cells (PBMCs) of an 8-year-old boy with Xq25 Microduplication Syndrome carrying a 1.3 Mb hemizygote duplication at chrXq25. The iPSCs expressed pluripotency markers, free of genomically
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Generation of a heterozygous C-peptide-mCherry reporter human iPSC line (HMGUi001-A-8) Stem Cell Res. (IF 4.489) Pub Date : 2020-12-16 Johanna Siehler; Anna Karolina Blöchinger; Melis Akgün; Xianming Wang; Alireza Shahryari; Arie Geerlof; Heiko Lickert; Ingo Burtscher
The peptide hormone insulin produced by pancreatic β-cells undergoes post-transcriptional processing before secretion. In particular, C-peptide is cleaved from pro-insulin to generate mature insulin. Here, we introduce a C-peptide-mCherry human iPSC line (HMGUi001-A-8). The line was generated by CRISPR/Cas9 mediated heterozygous insertion of the mCherry sequence into exon 3 of the insulin locus. We
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Generation of an induced pluripotent stem cell line SMBCi010-A from a male with Multiple Osteochondroma carrying a EXT1 mutation Stem Cell Res. (IF 4.489) Pub Date : 2020-12-07 Yazhou Cui; Jing Wang; Genglin Zhang; Jing Luan; Jinxiang Han
Multiple Osteochondroma is an abnormal skeleton development autosomal dominant genetic disease which caused by the mutation of EXT1 gene. In this study, we generated induced pluripotent stem cells (iPSCs) from the mesenchymal stem cells (MSCs) of a 12-year-old male patient by reprogramming MSCs with non-integrative vectors. The iPSCs line expresses pluripotent markers, has a normal male karyotype and
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Generation of multiple iPSC clones from a male schizophrenia patient carrying de novo mutations in genes KHSRP, LRRC7, and KIR2DL1, and his parents Stem Cell Res. (IF 4.489) Pub Date : 2020-12-25 Edit Hathy; Eszter Szabó; Katalin Vincze; Irén Haltrich; Eszter Kiss; Nóra Varga; Zsuzsa Erdei; György Várady; László Homolya; Ágota Apáti; János M. Réthelyi
Here we describe the generation of induced pluripotent stem cell lines from each member - male proband, mother, father - of a schizophrenia case-parent trio that participated in an exome sequencing study, and 3 de novo mutations were identified in the proband. Peripheral blood mononuclear cells were obtained from all three individuals and reprogrammed using Sendai virus particles carrying the Yamanaka
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Establishing a human embryonic stem cell clone with a heterozygous mutation in the DGCR8 gene Stem Cell Res. (IF 4.489) Pub Date : 2020-12-18 Dóra Reé; Adrienn Borsy; Ábel Fóthi; Tamás I. Orbán; György Várady; Zsuzsa Erdei; Balázs Sarkadi; János Réthelyi; Nóra Varga; Ágota Apáti
DiGeorge Syndrome (DGS) Critical Region 8 (DGCR8) is a primary candidate gene in they DGS. The DGCR8 microprocessor complex subunit is an essential cofactor in the canonical miRNA biogenesis which is involved in diverse cellular functions such as cell fate decisions, apoptosis and different signaling pathways. However, the role of DGCR8 in these processes or development of DGS is not fully understood
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Establishment of a human MYH6 compound heterozygous knockout hESC line to model cardiomyopathy and congenital heart defects by CRISPR/Cas9 system Stem Cell Res. (IF 4.489) Pub Date : 2020-12-16 Engang Hao; Guizhong Zhang; Lihua Mu; Nana Ma; Tao Wang
MYH6 encodes the alpha heavy chain subunit of cardiac myosin. Mutations in MYH6 cause cardiomyopathy and congenital heart defects. However, due to embryonic lethality in MYH6 knockout mice, the precise roles of MYH6 in cardiomyopathy, congenital heart defects and development process remain largely unknown. In this study, we generated a human MYH6 compound heterozygous knockout hESC line using CRISPR/Cas9
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Generation of an iPSC line (AKOSi004-A) from fibroblasts of a female adult NPC1 patient, carrying the compound heterozygous mutation p.Val1023Serfs*15/p.Gly992Arg and of an iPSC line (AKOSi005-A) from a female adult control individual Stem Cell Res. (IF 4.489) Pub Date : 2020-12-15 Christin Völkner; Maik Liedtke; Janine Petters; Jan Lukas; Hugo Murua Escobar; Gudrun Knuebel; Jörn Bullerdiek; Carsten Holzmann; Andreas Hermann; Moritz J. Frech
Niemann-Pick disease Type C (NPC) is a rare progressive neurodegenerative disorder with an incidence of 1:120,000 caused by mutations in the NPC1 or NPC2 gene leading to a massive cholesterol accumulation. Here, we describe the generation of induced pluripotent stem cells (iPSCs) of an affected female adult individual carrying the NPC1 mutation p.Val1023Serfs*15/p.Gly992Arg and an iPSC line from an
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Generation of three induced pluripotent stem cell lines from a patient with Usher syndrome caused by biallelic c.949C > A and c.1256G > T mutations in the USH2A gene Stem Cell Res. (IF 4.489) Pub Date : 2020-12-16 Khine Zaw; Elaine Y.M. Wong; Xiao Zhang; Dan Zhang; Shang-Chih Chen; Jennifer A. Thompson; Tina Lamey; Terri McLaren; John N. De Roach; Steve D. Wilton; Sue Fletcher; Chalermchai Mitrpant; Marcus D. Atlas; Fred K. Chen; Samuel McLenachan
Mutations in the USH2A gene are the most common cause of Usher syndrome and autosomal recessive non-syndromic retinitis pigmentosa. Here, we describe the generation of three induced pluripotent stem cell lines from dermal fibroblasts derived from a patient carrying biallelic c.949C > A and c.1256G > T variants in the USH2A gene, using episomal reprogramming plasmids expressing OCT4, SOX2, KLF4, MYCL
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Derivation of an induced pluripotent stem cell line (GWCMCi001-A) from PBMCs of a four-year-old male patient with Immunoglobulin A nephropathy Stem Cell Res. (IF 4.489) Pub Date : 2020-12-10 Xia Gao; Xin Liao; Jing Zhang; Jinai Lin; Mei Tan
Immunoglobulin A nephropathy (IgAN) is a common primary glomerular disease contributing to end-stage renal failure. In this study, the induced pluripotent stem cell line GWCMCi001-A from PBMCs of a 4-year-old male patient with IgAN using the episomal plasmids was established, which is an ideal in vitro model to understand the exact pathogenesis of IgAN.
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Generation of a FOXH1 homozygous knockout human embryonic stem cell line by CRISPR/Cas9 system Stem Cell Res. (IF 4.489) Pub Date : 2020-12-10 Tian Zhang; Wanlan Huang; Xingkui Xue
Human FOXH1 (Forkhead Box H1) gene encodes a human homolog of Xenopus forkhead activing signal transducer-1 and has been shown to play an important role in mesendoderm formation in X. tropicalis and mice. However, little is known about the function of FOXH1 in human development. Here we generated a FOXH1 homozygous knockout human embryonic stem cell (hESC), WAe009-A-42 by CRISPR/Cas9 mediated gene
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Generation of a human iPSC line GIBHi002-A-2 with a dual-reporter for NKX2-5 using TALENs Stem Cell Res. (IF 4.489) Pub Date : 2020-12-10 Min Zhou; Rui Wei; Yu Jiang; Jian Fu; Yuqing Liu; Bo Yang; Baorong Yu; Yun Lin; Xinru Ran; Wing-Hon Lai; Meng Chu; Yang Hu; Jiayin Yang; Hung-Fat Tse
The human transcription factor NKX2-5 plays an important role in cardiac formation and development, and thus it can be used for isolation of cardiomyocytes (CMs) differentiated from human pluripotent stem cells (hPSCs). Here, we knocked-in enhanced GFP (eGFP) and Pac (a puromycin resistant gene; PuroR) into the exon 1 coding region of NKX2-5 from a human iPSC line iPSN0003 using TALENs. The generated
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Sex-dependent immune response and lethality of COVID-19 Stem Cell Res. (IF 4.489) Pub Date : 2020-12-16 Albert Jiarui Li; Xiajun Li
COVID-19 has spread to all countries around the world after it was first discovered in Wuhan of China at the end of 2019. It is caused by a novel coronavirus called SARS-CoV-2 with much semblance to SARS-CoV including the sequence homology and disease symptoms. It is reported to be more infectious than SARS-CoV due to higher binding affinities between its spike protein and the ACE2 receptor on cell
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Neutralizing antibodies targeting SARS-CoV-2 spike protein Stem Cell Res. (IF 4.489) Pub Date : 2020-12-15 Shi Xiaojie; Li Yu; Yan lei; Yang Guang; Qiang Min
SARS-CoV-2 causing the worldwide pandemic has changed people’s life in multiple aspects dramatically since it’s first identified in Wuhan, China at the end of 2019. While the numbers of infected patients and death toll keep vigorous increasing, curbing the progression of the pandemic is an urgent goal. Efforts have been made to search for prophylactic and therapeutic approaches including neutralizing
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Generation of human induced pluripotent stem cell (iPSC) lines (UUMCBi001-A, UUMCBi002-A) from two healthy donors Stem Cell Res. (IF 4.489) Pub Date : 2020-12-09 Svitlana Vasylovska; Jens Schuster; Anja Brboric; Per-Ola Carlsson; Niklas Dahl; Joey Lau
Availability of numerous high-quality iPSC lines is needed to overcome donor-associated variability caused by genetic background effects. We generated two human iPSC lines from dermal fibroblasts of two healthy females using Sendai virus reprogramming. Quality assessment of the iPSC lines confirmed the expression of pluripotency markers, trilineage differentiation capacity and absence of exogenous
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Generation of an iPSC line (IMAGINi011-A) from a patient carrying a STING mutation Stem Cell Res. (IF 4.489) Pub Date : 2020-12-02 Laura Barnabei; Mathieu Castela; Celine Banal; Nathalie Lefort; Frédéric Rieux-Laucat
Mutation in STING1 gene, which encodes stimulator of type I IFN gene (STING) leads to its constitutive activation and thereby to a severe vasculopathy and sometimes a lupus-like disease. We generated induced pluripotent stem cells (iPSCs) from a patient carrying a rare heterozygous variant c.463G > A (resulting in a p.V155M substitution) in STING1. Cells from this patient, which were reprogrammed by
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Furin cleavage sites naturally occur in coronaviruses Stem Cell Res. (IF 4.489) Pub Date : 2020-12-09 Yiran Wu; Suwen Zhao