ARID1B haploinsufficiency induced by missense or nonsense mutations of ARID1B is a cause of Coffin-Siris syndrome (CSS), a neurodevelopmental disorder associated with intellectual disability. At present, no appropriate human stem cell model for ARID1B-associated CSS has been reported. Here, we describe the generation and validation of ARID1B+/- hESCs by introducing out of frame deletions into exon

Peripheral blood mononuclear cells (PBMCs) were isolated from a 57-year-old female who was clinically diagnosed as familial atrial fibrillation and were reprogrammed using non-integrative Sendai viral vectors containing reprogramming factors OCT4, SOX2, KLF4 and cMYC. The generated human induced pluripotent stem cell (hiPSC) line, ZZUSAHi001-A, exhibited a normal karyotype, showed robust expression

Using non-integrative reprogramming method, a human induced pluripotent stem cell (iPSC) line, ZZUNEUi005-A, was generated from a 36-year-old male patient with Wilson’s disease, carrying a homozygous Pro992Leu mutation in the ATP7B gene. This cell line shows pluripotency both in vitro and in vivo and has a normal karyotype. Furthermore, we showed that this iPSC line could be differentiated into neural

Induced pluripotent stem cell lines (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a 14 year-old boy and his mother using same protocols. Diagnosis of combined oxidative phosphorylation deficiency (COXPD) was established after identifying a homozygous c.823C>T(p.L275F) variant in C1QBP gene carried by the boy, inherited from his asymptomatic

RNA binding motif protein 20 (RBM20) is an alternative splicing factor and highly expressed in cardiac tissue. Mutations in the RS domain of RBM20 have been shown to cause different cardiomyopathies. Here, we generated induced pluripotent stem cells (iPSCs) from a dilated cardiomyopathy patient harboring the heterozygous RBM20 mutation p.R634W and consecutively produced isogenic control line using

Many patients with acute lymphoblastic leukemia (ALL) show relapse post-chemotherapy. Therefore, it is important to develop a human induced pluripotent stem cell (hiPSC) line from ALL cells to verify the pathophysiology. However, the low efficiency of the established reprogramming protocol has hampered the development of ALL hiPSC lines. Our recently reported novel reprogramming method, using human

Osteogenesis Imperfecta (OI) is a rare autosomal dominant metabolic disorder caused by heterozygous mutations in the COL1A1 or COL1A2 genes, which encode the pro-α1(I) and pro-α2(I) chains of type I procollagen, respectively. A human induced pluripotent stem cell (iPSC) line, termed as CHFUi001-A, was generated from peripheral blood mononuclear cells (PBMCs) of a 5-year-old female patient with OI,

α-Synuclein (α-Syn) aggregates, the major toxic component of Lewy bodies, are proteinaceous fibrillar cytoplasmic inclusions observed in α-synucleinopathies, such as Parkinson’s disease (PD), multiple system atrophy, and dementia with Lewy bodies. Overexpression of α-syn induce neuronal loss and α-syn aggregation in PD animals. Recent studies show that α-syn is released by exocytosis and can be transmitted

Amyotrophic Lateral Sclerosis is the most common motor neuron degenerative disease in adults, and TARDBP gene mutations have been reported to be involved in the pathogenesis. We present here how we generated the human induced pluripotent stem cell (hiPSC) line KEIOi001-A/SM4-4-5 from the peripheral blood of a 63-year-old male patient presenting the c.1035C > G heterozygous SNP mutation in the TARDBP

Human iPSC lines were generated from peripheral blood mononuclear cells of patient carrying LMNA mutation associated with Emery–Dreifuss muscular dystrophy accompanied by atrioventricular block and paroxysmal atrial fibrillation. Reprogramming factors OCT4, KLF4, SOX2, CMYC were delivered using Sendai virus transduction. iPSCs were characterized in order to prove the pluripotency markers expression

The non-POU domain containing octamer-binding gene (NONO) encodes a member of a small family of RNA-binding and DNA-binding proteins, whose variants can cause intellectual disability and congenital heart defects. In this study, we generated a homozygous NONO knockout (NONO-KO) induced pluripotent stem cell (iPSC) line (CMUi002-A-1) using the CRISPR/Cas9-based genome editing system. The gene-edited

Using a non-integrative reprogramming method, a human iPSC Line, ZZUNEUi002-A, was generated from a 22-year-old male patient with spinocerebellar ataxia type 3 /Machado-Joseph disease (SCA3/MJD). This cell line shows pluripotency both in vitro and vivo, and has a normal karyotype. The iPSC line could be used as a tool for mechanism researching and drug screening.

Induced pluripotent stem cells (iPSCs) were generated from skin fibroblasts obtained from a 24-year-old female diagnosed with hereditary congenital myasthenic syndrome (CMS), caused by p.Arg331Trp (c.991C > T) homozygous mutation in the gene coding for the epsilon subunit of the acetylcholine receptor (CHRNE). The generated iPSCs shared similar karyotype with the parental dermal fibroblast cells, expressed

Myoclonus Epilepsy and Ataxia due to Potassium channel mutation (MEAK) is a rare epilepsy caused by changes in the structure and function of potassium channels due to mutations in the potassium voltage-gated channel subfamily C member 1 (KCNC1) gene. MEAK is one of the progressive myoclonus epilepsy (PME), and there are few studies on MEAK pathogenesis and targeted drugs. Here, we used peripheral blood

Induced pluripotent stem cell (iPSC) line HUi001-A was reprogrammed from skin fibroblasts via non-integrating, virus free self-replicating RNA. Skin fibroblasts from an 81-year-old female Caucasian familial Alzheimer’s disease patient of Volga German family carrying N141I mutation in the PSEN2 gene (familial AD4, clinical summary confirmed Alzheimer’s disease) was obtained from the Coriell Institute

Variations in PRKN or HTRA2 are associated with Parkinson’s disease. We generated a human induced pluripotent stem cell (iPSC) line CIBi007-A from a patient with young-onset Parkinson’s disease (YOPD) who carried variants in PRKN and HTRA2. The generated iPSCs resembled human embryonic stem cells, expressed pluripotency markers, exhibited a normal karyotype, and could be differentiated into three germ

Gestational diabetes mellitus (GDM) has been strongly associated with an increased risk of type 2 diabetes mellitus (T2DM) in later child and adulthood. The human umbilical cord and its contents are of fetal origin and represent the fetus genetically and physiologically. Since it is not possible to obtain tissues from the fetus and newborn to investigate the association between GDM and later T2DM,

Background & aims Biliary injury is one of the main pathological mechanisms of fulminant hepatic failure (FHF). Delta-like ligand 4 (DLL4)-mediated Notch activation contributes to reversing biliary injury; however, the specific role of DLL4 in biliary restoration is still unclear. This study aimed to determine whether human bone marrow mesenchymal stem cells (hBMSCs) can differentiate into biliary

Human integration-free induced pluripotent pluripotent stem cells (hiPSCs) were generated from skin fibroblasts obtained from a 27-year-old healthy Jordanian female. The resulting iPSCs expressed the most common pluripotency stem cell markers, they retained the normal karyotype similar to the original fibroblasts and showed the potential to differentiate into three germ layers in vitro. This iPSC line

Chediak-Higashi Syndrome (CHS) is a lysosome-related organelle (LRO) disorder caused by biallelic mutations in the lysosomal trafficking regulator gene, LYST. The clinical features of CHS include oculocutaneous albinism, primary immunodeficiency, bleeding diathesis, risk for development of hemophagocytic lymphohistiocytosis, and progressive neurological problems. The pathophysiological mechanisms underlying

Recent advances of stem cell-based therapies in clinical trials have raised the need for large-scale manufacturing platforms that can supply clinically relevant doses to meet an increasing demand. Promising results have been reported using stirred-tank bioreactors, where human Mesenchymal Stromal Cells (hMSCs) were cultured in suspension on microcarriers (MCs), although the formation of microcarrier-cell-aggregates

Human urine cells from a 6-year-old male X-linked Barth syndrome patient harboring a TAZ frameshift (c.517delG, Xq28) were reprogrammed into the induced pluripotent stem cell (iPSC) line WMUi002-A using non-integration CytoTune®-iPS 2.0 Sendai Virus Reprogramming kit, including four well-known Yamanaka factors SOX2, OCT4, KLF4, and c-MYC. The established patient-derived iPSC expressed endogenous pluripotent

Human RNF2 (RING1B) gene is a critical epigenetic modification factor for embryonic development, pluripotency and differentiation of embryonic stem cells (ESCs). To further gain insights into the role of RNF2 in cell fate decisions of human ESCs, here we generated two RNF2 homozygous knockout human ESC lines by CRISPR/Cas9 genome editing technology. These cell lines maintained a normal karyotype and

Dravet syndrome is known as an intractable infantile epilepsy caused by a heterozygous de novo mutation in SCN1A, with mutations being reported globally. In this study, we established 2 human induced pluripotent stem cell lines by expressing reprogramming factors, OCT3/4, SOX2, KLF4, L-MYC, LIN28 and p53 shRNA in the fibroblast skin cells of a patient with Dravet syndrome harboring the Y1102X pathogenic

The value of human pluripotent stem cells (hPSC) in regenerative medicine has yet to reach its full potential. The road from basic research tool to clinically validated PSC-derived cell therapy products is a long and winding one, leading researchers, clinicians, industry and regulators alike into undiscovered territory. All stakeholders must work together to ensure the development of safe and effective

G protein-coupled receptor 68 (GPR68) responds to extracellular protons, thus called the proton-sensing G protein-coupled receptor (GPCR), leading to activation of the phospholipase C-β (PLCβ)/calcium (Ca2+) pathway or the adenylyl cyclase (AC)/cyclic AMP (cAMP) pathway. We recently found that whole body deletion of Gpr68 (Gpr68−/− mice) reduced the number of B lymphocytes with age and during hematopoietic

Aims Mesenchymal stromal/stem cell (MSC)-derived extracellular vesicles (EVs) shuttle select MSC contents and are endowed with an ability to repair ischemic tissues. We hypothesized that exposure to cardiovascular risk factors may alter the microRNA cargo of MSC-derived EVs, blunting their capacity to repair the post-stenotic kidney in pigs with metabolic syndrome (MetS) and renal artery stenosis (RAS)

Human induced pluripotent stem cells (iPSCs) are an ideal model for pathomechanism investigation and drug screening due to their differentiation potency. Here, we generated an iPSC line, SHUPLi001-A, from peripheral blood mononuclear cells (PBMCs) of a healthy 30-year-old male individual using non-integrating Sendai virus. Characterization of SHUPLi001-A was confirmed by the expression of typical pluripotency

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, characterised by the development of multiple fluid-filled cysts in the kidneys and other organs. PKD1 and PKD2 are the two major causative genes encoding for polycystin-1 and polycystin-2, respectively. Here, we report the generation of two isogenic induced pluripotent stem cell (iPSC) lines with either

FLNA gene encodes an actin-binding protein filamin A and mutations in FLNA can causes X-Linked cardiac valvular dysplasia. In this study, we report the generation of ZZUNEUi008-A, a human induced pluripotent stem cell line from a 10-year-old male patient with c. 84G → A in FLNA gene using non-integrative Sendai viral reprogramming technology. The ZZUNEUi008-A iPSC line expresses pluripotency markers

Autosomal dominant polycystic kidney disease (ADPKD) is the most common hereditary kidney disease, characterised by the development of multiple fluid-filled cysts in the kidneys and other organs. PKD1 and PKD2 are the two major causative genes encoding for polycystin-1 and polycystin-2, respectively. Here, we report the generation of two isogenic induced pluripotent stem cell (iPSC) lines with either

Mutations in the NPHS2 gene, encoding podocin, are responsible for the majority of familial cases of steroid-resistant nephrotic syndrome (SRNS), a rare glomerulopathy that rapidly progresses to end-stage renal disease. We obtained peripheral blood mononuclear cells (PBMCs) from a patient carrying the homozygous c.413G>A substitution (p.R138Q) in NPHS2 gene, which is the most prevalent mutation in

Ankylosing spondylitis (AS) is a highly heritable, inflammatory rheumatic disease, characterized by inflammation of the spine and the sacroiliac joints. Although some genes are reportedly associated with this disease, the pathogenesis of AS remains largely unknown. In this study, the peripheral blood mononuclear cells of a patient with AS were reprogrammed to induced pluripotent stem cells (iPSCs)

The human-induced pluripotent stem cell (KIN-hiPSCs) line (CMCi001-A), derived from peripheral blood mononuclear cells (PBMCs) of a 42-year-old woman with karyomegalic interstitial nephritis (KIN) caused by the mutation of FANCD2/FANCI-Associated Nuclease 1 (FAN1) gene, was generated using Sendai virus. KIN-hiPSCs showed a typical human embryonic stem cell like morphology and expressed all pluripotency-associated

Dravet syndrome is a neurological disorder characterized by treatment-resistant polymorphic seizures, primarily caused by loss-of-function in the SCN1A gene. To develop an in vitro model of this disease, in a previously study we generated an induced pluripotent stem cell line from a 10-year-old boy carrying the NM_001165963.1:c.5768A to G (Q1923R) mutation in SCN1A. Using TALEN-mediated genome editing

Pulmonary arterial hypertension (PAH) is a rare but severe illness associated with mutations in the PTGIS gene. The single nucleotide variants may lead to the impairment of the endothelial cells functions, resulting in proliferation of the smooth muscle cells and occlusion of the pulmonary arterioles. We derived an induced pluripotent cell line from a PAH patient with heterozygous PTGIS c.755 G > A

The aristaless related homeobox (ARX) transcription factor plays a crucial role in glucagon-producing α-cell differentiation. Here, we generate an ARX reporter iPSC line by 3′ fusion of an intervening viral T2A sequence followed by a nuclear-localized histone 2B-cyan fluorescent protein (nCFP). The resulting cells have a normal karyotype and preserved pluripotency. In vitro differentiation of the ARXnCFP/nCFP

Wilson’s disease (WD) is an inherited autosomal recessive disease, which is caused by the mutation of ATP7B gene encoding copper-transporting ATPase protein. The WD patients always suffer from the excessive copper deposition in the liver and other tissues because of the dysfunction of the copper-transporting ATPase protein. In this study, we generated a patient-specific induced pluripotent stem cell

Allan–Herndon–Dudley syndrome (AHDS) is a rare, X-chromosome-linked inherited disorder that affects brain development and is caused by a mutation in SLC16A2. Herein, we generated an induced pluripotent stem cell (iPSC) line from the peripheral blood mononuclear cells of a one-year-old male infant with AHDS using Sendai-virus-mediated reprogramming. These iPSCs exhibited stable amplification, expressed

The study of human midbrain development and midbrain related diseases, like Parkinson’s disease (PD), is limited by deficiencies in the currently available and validated laboratory models. Three dimensional midbrain organoids represent an innovative strategy to recapitulate some aspects of the complexity and physiology of the human midbrain. Nevertheless, also these novel organoid models exhibit some

Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from mutations in DNAJC19. Two patient-derived dermal fibroblast cell lines of siblings with the same homozygous splice acceptor site mutation in DNAJC19 (NM_145261.4):c.130-1G>C were reprogrammed into induced pluripotent stem cell (iPSC) lines (LIBUCi001-A and LIBUCi002-A) using non-integrative Sendai virus. Additionally

MYB/c-MYB is a proto-oncogene encoding a helix-turn-helix transcription factor that plays a critical role in controlling proliferation and multilineage differentiation of hematopoietic progenitor and stem cells. Deregulation of MYB expression is associated with several types of leukemias and lymphomas. In an attempt to explore the role of the gene in the early human hematopoiesis, we have achieved

De novo pathogenic variants in KCNA2 are implicated in causing a spectrum of human neurological disorders, in particular developmental and epileptic encephalopathies. KCNA2 encodes the voltage-gated delayed rectifier potassium channel Kv1.2, which is vital in regulating neuronal membrane potential and repolarization. In this study, we generated three iPSC lines with non-integrating Sendai viral vectors

Wolfram Syndrome is a rare, autosomal recessive genetic disorder with clinical symptoms appearing in early childhood. Here, we report a generation of iPSCs from fibroblasts of a patient affected by this disease. Induced pluripotent cells obtained with the application of integration-free episomal vectors display a normal human karyotype, express pluripotency markers, and are capable of differentiating

Crisponi syndrome/cold-induced sweating syndrome type 2 (CS/CISS2) is a rare disease with severe dysfunctions of thermoregulatory processes. CS/CISS2 individuals suffer from recurrent episodes of hyperthermia in the neonatal period and paradoxical sweating at cold ambient temperatures in adolescence. Variants in CLCF1 (cardiotrophin-like-cytokine 1) cause CS/CISS2. Here, we summarize the generation

Adult kidney stem cells are known to have important roles in renal regeneration after acute kidney injury. Although trophic factors from tissue stem cells have been reported to promote the regeneration of other organs, there is limited number of evidence of this phenomenon in the kidneys. Here, we explored the effects of secreted factors from kidney stem cells. We intraperitoneally administered culture

Androgen receptor (AR) is essential for maintaining normal spermatogenesis and male fertility, and its mutation can cause complete or partial androgen insensitivity syndrome (CAIS or PAIS) in patients. We established an induced pluripotent stem cell line (SKLRMi001-A) from a PAIS patient with AR mutation (c.2710G>A; p. V904M). The iPSC line expressed pluripotency markers, retained normal karyotype

Mutations in the neurofibromin (NF1) gene cause neurofibromatosis type 1 (NF1), a complex tumour predisposition syndrome. Here, we generated two induced pluripotent stem cell (iPSC) lines using urine cells (UCs) derived from a 21-year-old female NF1 patient carrying c.496_497delGT mutation in the NF1 gene (p.Val166LeufsTer7). The newly derived SMBCi003-A and SMBCi003-B iPSC lines used as a cellular

Cytokine receptor like factor 1 (CRLF1) is the gene implicated, when mutated, in Crisponi syndrome/cold-induced sweating syndrome type 1 (CS/CISS1). Here, we report the establishment of induced pluripotent stem cell lines (iPSCs) from fibroblasts of a Turkish CS/CISS1 individual with a homozygous variant in CRLF1 (c.708_709delinsT; p.[Pro238Argfs*6]). This variant is the most frequent variant associated

Fibroblasts from a patient carrying a heterozygous 18bp deletion in exon 8 of the ACVRL1 gene (c.1120del18) were reprogrammed using episomal vectors. The in-frame deletion in ACVRL1 causes the loss of 6 amino acids of the protein, which is associated with Hereditary Hemorrhagic Telangiectasia (HHT) type 2 (Letteboer et al., 2005). CRISPR-Cas9 editing was used to genetically correct the mutation in

Mutations occurring in the gene body of PARK7 (encoding DJ-1/PARK7) cause autosomal recessive early-onset parkinsonism (AREP). These mutations produce a loss of function and have been reported to lead to dopaminergic neuron degeneration in the substantia nigra. However, the underlying mechanisms are largely unknown. Here, we report the generation of a patient-derived induced pluripotent stem cell (iPSC)

Cognitive decline is among the most feared aspects of ageing. We have generated induced pluripotent stem cells (iPSCs) from 24 people from the Lothian Birth Cohort 1936, whose cognitive ability was tested in childhood and in older age. Peripheral blood mononuclear cells (PBMCs) were reprogrammed using non-integrating oriP/EBNA1 backbone plasmids expressing six iPSC reprogramming factors (OCT3/4 (POU5F1)