Generation of two induced pluripotent stem cell (iPSC) lines from X-linked adrenoleukodystrophy (X-ALD) patients with adrenomyeloneuropathy (AMN).
Sign Up to like & getrecommendations! Published in 2017 at "Stem cell research"
DOI: 10.1016/j.scr.2017.10.003
Abstract: X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder caused by a mutation in the ATP-binding cassette transporter subfamily D member 1 (ABCD1) gene. We generated two induced pluripotent stem cell (iPSC) lines from X-ALD patients with… read more here.
Keywords: linked adrenoleukodystrophy; stem cell; two induced; ipsc lines ... See more keywords
Generation of integration-free iPS cell lines from three sickle cell disease patients from the state of Bahia, Brazil.
Sign Up to like & getrecommendations! Published in 2018 at "Stem cell research"
DOI: 10.1016/j.scr.2018.09.011
Abstract: Abstract Sickle cell disease (SCD) is one of the most prevalent and severe monogenetic disorders, affecting several million people around the world. Clinical manifestations and complications of the disease include sickle cell pain crisis, silent… read more here.
Keywords: patients state; cell disease; ipsc lines; lines three ... See more keywords
Generation and characterization of eight human-derived iPSC lines from affected and unaffected THAP1 mutation carriers.
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DOI: 10.1016/j.scr.2018.09.018
Abstract: Mutations in THAP1 (THAP domain-containing apoptosis-associated protein 1) cause a form of early-onset, isolated dystonia (DYT-THAP1, aka DYT6). Here, we describe the generation of eight human induced pluripotent stem cell (iPSC) lines of manifesting and… read more here.
Keywords: eight human; characterization eight; generation characterization; ipsc lines ... See more keywords
Generation of iPSC lines from peripheral blood mononuclear cells from 5 healthy adults.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2018.101380
Abstract: We describe the generation and characterization of 5 human induced pluripotent stem cell (iPSC) lines derived from peripheral blood mononuclear cells (PBMCs) of healthy adult individuals. The PBMCs were reprogrammed using non-integrating Sendai viruses containing… read more here.
Keywords: blood mononuclear; mononuclear cells; generation; peripheral blood ... See more keywords
Generation of two iPSC lines (ICGi008-A and ICGi008-B) from skin fibroblasts of a patient with early-onset Alzheimer's disease caused by London familial APP mutation (V717I).
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101415
Abstract: The induced pluripotent stem cell (iPSC) lines ICGi008-A and ICGi008-B were generated from dermal fibroblasts using episomal vectors expressing pluripotency factors. Dermal fibroblasts were obtained from a 55 year old male Сaucasian familial Alzheimer's disease (AD)… read more here.
Keywords: alzheimer disease; lines icgi008; ipsc lines; icgi008 icgi008 ... See more keywords
Generation of human induced pluripotent stem cell (iPSC) lines from three patients with von Hippel-Lindau syndrome carrying distinct VHL gene mutations.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101474
Abstract: Von Hippel-Lindau (VHL) syndrome is a familial cancer syndrome caused by mutations in the tumor suppressor gene VHL. We generated human iPSC lines from primary dermal fibroblasts of three VHL syndrome patients carrying distinct VHL… read more here.
Keywords: hippel lindau; von hippel; ipsc lines; carrying distinct ... See more keywords
Mowat-Wilson syndrome: Generation of two human iPS cell lines (UUIGPi004A and UUIGPi005A) from siblings with a truncating ZEB2 gene variant.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101518
Abstract: Mowat-Wilson syndrome (MWS) is a complex developmental syndrome caused by heterozygous mutations in the Zinc finger E-box-binding homeobox 2 gene (ZEB2). We generated the first human iPSC lines from primary fibroblasts of two siblings with… read more here.
Keywords: zeb2; cell; mowat wilson; ipsc lines ... See more keywords
Generation of six induced pluripotent stem cell (iPSC) lines from two patients with amyotrophic lateral sclerosis (NUIGi043-A, NUIGi043-B, NUIGi043-C, NUIGi044-A, NUIGi044-B, NUIGi044-C).
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101558
Abstract: In this study, we generated 6 induced pluripotent stem cell (iPSC) lines derived from dermal fibroblasts of patients with sporadic amyotrophic lateral sclerosis (sALS). The fibroblasts were reprogrammed using non-integrating Sendai viruses containing four reprogramming… read more here.
Keywords: nuigi044; stem cell; nuigi043 nuigi043; ipsc lines ... See more keywords
Generation of three iPSC lines from fibroblasts of a patient with Aicardi Goutières Syndrome mutated in TREX1.
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101580
Abstract: Fibroblasts from a patient with Aicardi Goutières Syndrome (AGS) carrying a compound heterozygous mutation in TREX1, were reprogrammed into induced pluripotent stem cells (iPSCs) to establish isogenic clonal stem cell lines: UNIBSi006-A, UNIBSi006-B, and UNIBSi006-C.… read more here.
Keywords: aicardi gouti; res syndrome; fibroblasts patient; patient aicardi ... See more keywords
Derivation of familial iPSC lines from three patients with retinitis pigmentosa carrying an autosomal dominant RPE65 mutation (NUIGi027-A, NUIGi028-A, NUIGi029-A).
Sign Up to like & getrecommendations! Published in 2019 at "Stem cell research"
DOI: 10.1016/j.scr.2019.101665
Abstract: Retinitis Pigmentosa (RP) is an inherited disorder of retinal degeneration with progressive loss of rod and cone photoreceptors. RPE65 is a gene encoding the trans-cis isomerase which is essential for the classical visual cycle. While… read more here.
Keywords: derivation familial; retinitis pigmentosa; ipsc lines; rpe65 ... See more keywords
Generation of two iPSC lines (FAMRCi004-A and FAMRCi004-B) from patient with familial progressive cardiac conduction disorder carrying genetic variant DSP p.His1684Arg.
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DOI: 10.1016/j.scr.2020.101720
Abstract: Human iPSC cell lines (FAMRCi004-A and FAMRCi004-B) were generated from patient with progressive cardiac conduction disease and sick sinus syndrome carrying DSP p.His1684Arg genetic variant. Patient-specific adipose tissue-derived mesenchymal multipotent stromal cells were reprogrammed using… read more here.
Keywords: cardiac conduction; progressive cardiac; lines famrci004; famrci004 famrci004 ... See more keywords