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Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.

Stem cell research - 1 Aug 2018

Zurita-Díaz Francisco, Ortuño-Costela María Del Carmen, Moreno-Izquierdo Ana, Galbis Liliana, Millán José María, Ayuso Carmen, Garesse Rafael, Gallardo M Esther

Abstract excerpt

A human iPSC line, IISHDOi004-A, from fibroblasts obtained from a patient with Usher syndrome, harboring a homozygous mutation in the USH2A gene (c.2276G>T; p.Cys759Phe) has been generated. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus.

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Identifiers

PMID: 30096711
DOI: 10.1016/j.scr.2018.08.002

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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Establishment of a human iPSC line, IISHDOi004-A, from a patient with Usher syndrome associated with the mutation c.2276G>T; p.Cys759Phe in the USH2A gene.PMID 30096711Read ↗

Establishment of iPS cell line (KLRMMEi003-A) from a patient with Usher syndrome due to USH2A mutation.Semantic proximity Read ↗

Generation and characterization of a human iPSC line (JUFMDOi007-A) from a patient with Usher syndrome due to mutation in USH2A.Semantic proximity Read ↗

Generation of the induced pluripotent stem cell line BTHBIOi002-A derived from a USH2 patient with c.2512C>T and c.2802T>G mutations in USH2A gene.Semantic proximity Read ↗

Generation of a human iPSC line, INMi005-A, from a patient with non-syndromic USH2A-associated retinitis pigmentosa.Semantic proximity Read ↗

Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B.Semantic proximity Read ↗

Establishment of a human iPSC line (IISHDOi001-A) from a patient with McArdle disease.Semantic proximity Read ↗

Generation of the iPSC line IISHDOi007-A from peripheral blood mononuclear cells from a patient with McArdle disease harbouring the mutation c.2392 T > C; p.Trp798Arg.Semantic proximity Read ↗

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Establishment of iPS cell line (KLRMMEi002-A) by reprogramming peripheral blood mononuclear cells from a patient with USH2A-associated Usher syndrome.Semantic proximity Read ↗

Establishment of a human DOA 'plus' iPSC line, IISHDOi003-A, with the mutation in the OPA1 gene: c.1635C>A; p.Ser545Arg.Semantic proximity Read ↗

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