Stem Cell Research
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4.49
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Papers 2305
1 page of 231 pages (2,305 results)
Newest
#1Sang Yoon Moon (Lions Eye Institute)H-Index: 1
#2Dan Zhang (Lions Eye Institute)H-Index: 8
Last. Samuel McLenachan (Lions Eye Institute)H-Index: 9
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Abstract Two human iPSC lines were generated from dermal fibroblasts derived from a patient with retinitis pigmentosa caused by CRB1 mutation using episomal plasmids containing OCT4, SOX2, LIN28, KLF4, L-MYC and mp53DD. These clonal iPSC lines carry compound heterozygous mutations in CRB1 (c.2555T>C and c.3014A>T). Both lines expressed pluripotency markers, displayed a normal karyotype and demonstrated the ability to differentiate into the three primary germ layers, as well as retinal organoids.
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#1Gema Mondéjar-Parreño (Cardiovascular Institute of the South)
#2James W.S. Jahng (Cardiovascular Institute of the South)
Last. Joseph C. Wu (Cardiovascular Institute of the South)H-Index: 101
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Abstract Congenital long QT syndrome type 2 (LQT2) results from KCNH2 mutations that cause loss of Kv11.1 channel function which can lead to arrhythmias, syncope, and sudden death. Here, we generated three human-induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of LQT2 patients carrying pathogenic variants (c.1714G>A; c.2960del) and a variant of uncertain significance (c.1870A>T) in KCNH2. All lines show typical iPSC morphology, high expression of pluripo...
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#1Manisha Pradhan (NIH: National Institutes of Health)H-Index: 8
#2Atena Farkhondeh (NIH: National Institutes of Health)H-Index: 4
Last. Wei Zheng (NIH: National Institutes of Health)H-Index: 42
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Abstract NGLY1 deficiency is a rare disorder caused by mutations in the NGLY1 gene which codes for the highly conserved N-glycanase1 (NGLY1). This enzyme functions in cytosolic deglycosylation of N- linked glycoproteins. An induced pluripotent stem cell (iPSC) line was generated from the dermal fibroblasts of a 2-year-old patient carrying compound heterozygous mutations, p.R390P and p.L318P in the NGLY1 gene. This cell-based iPSC disease model provides a resource to study disease pathophysiology...
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#1JIajia Yang (USF: University of South Florida)
#2Eva Samal (USF: University of South Florida)H-Index: 2
Last. Thomas V. McDonald (USF: University of South Florida)H-Index: 28
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Abstract Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being desmosomal genes like Plakophilin-2 (PKP2). Here, we generated an iPSC cell line bearing a pathogenic heterozygous mutation in PKP2 (c.1799delA) from a patient affected by ARVC. Peripheral blood mononuclear cells were reprogrammed by Sendai virus vectors...
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#1Mariana Burgos Angulo (USF: University of South Florida)
#2JIajia Yang (USF: University of South Florida)
Last. Thomas V. McDonald (USF: University of South Florida)H-Index: 28
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Abstract Friedreich's Ataxia (FA) is an autosomal recessive disorder with an incidence of 1 in 50,000 in Caucasians. Most cases are caused by a biallelic GAA expansion in the first intron of the Frataxin (FXN) gene. FA is a neurodegenerative disease, but the leading cause of death is hypertrophic cardiomyopathy (HCM) that develops in 60% of the patients. We generated an induced pluripotent stem cell (iPSC) line from an FA patient with a homozygous GAA expansion in intron 1 of the FXN gene. The I...
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Abstract Variants in FBN1 are associated with Marfan Syndrome, an autosomal dominant disorder with clinical features that involve the musculoskeletal, cardiovascular and ocular systems. We generated a human iPSC line QDMHi001-A from a patient with Marfan syndrome and a heterozygous c.6772T>C (p.Cys2258Arg) variant in FBN1. This line will be a valuable resource for in vitro disease modeling and drug testing for Marfan syndrome.
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#1JIajia Yang (USF: University of South Florida)
#2Mariana Burgos Angulo (USF: University of South Florida)
Last. Thomas V. McDonald (USF: University of South Florida)H-Index: 28
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Abstract Mutations in the gene that encodes the nuclear envelope proteins lamin A/C (LMNA) are considered to be a prominent cause of Dilated cardiomyopathy (DCM), a leading cause of heart failure and a prevalent indication for heart transplant. Here we described the generation of induced pluripotent stem cells (iPSCs) from a 53-year-old female with DCM plus progressive conduction disease who carry a heterozygous mutation in LMNA (c.1621C>T, p.R541C). PBMCs isolated from the patient were reprogra...
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#1Jin Wang (Hebei Medical University)
#2Xin Liu (National University of Ireland, Galway)
Last. Huixian Cui (Hebei Medical University)H-Index: 2
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Abstract Apolipoprotein E (ApoE) is a lipid-binding protein with e2, e3, and e4 allelic variants in human. The e4 isoform (ApoE4) is the strongest genetic risk factor for the late-onset form of Alzheimer’s disease (AD), and is also associated with multiple neurological disorders, multiple sclerosis, and cerebrovascular disease. Here, induced pluripotent stem cells were derived from the peripheral blood mononuclear cells of a 70-year-old male donor with APOE-e4/e4 alleles background to explore pa...
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#1Lingqun Ye (Soochow University (Suzhou))H-Index: 3
#2You Yu (Soochow University (Suzhou))H-Index: 6
Last. Shijun Hu (Soochow University (Suzhou))H-Index: 34
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Abstract Heterozygous T280M mutation in the GATA4 gene, encoding GATA binding protein 4, was recently identified in patients with congenital heart disease (CHD). Here, a human embryonic stem cell line carrying a heterozygous GATA4T280M mutation was generated by using the CRISPR/Cas9 and piggyBac technologies. This GATA4T280M cell line remains normal morphology, pluripotency and karyotype, and could differentiate into all three germ layers both in vivo and in vitro. Thus, the GATA4T280M cell line...
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#1Mariana Argenziano (USF: University of South Florida)H-Index: 6
#2Mariana Burgos Angulo (USF: University of South Florida)
Last. Thomas V. McDonald (USF: University of South Florida)H-Index: 28
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Abstract Dilated Cardiomyopathy (DCM) is one of the main causes of sudden cardiac death and heart failure and is the leading indication for cardiac transplantation worldwide. Mutations in different genes including TTN, MYH7, and LMNA, have been linked to the development of DCM. Here, we generated a human induced pluripotent stem cell (IPSC) line from a DCM patient with a familial history that carries a frameshift mutation in Filamin C (FLNC). The IPSCs show typical morphology of pluripotent cell...
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Top fields of study
Induced pluripotent stem cell
Embryonic stem cell
Cellular differentiation
Molecular biology
Stem cell
Genetics
Biology
Cell biology