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Article

Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.

Stem cell research - 1 May 2016

Galera-Monge Teresa, Zurita-Díaz Francisco, Moreno-Izquierdo Ana, Fraga Mario F, Fernández Agustin F, Ayuso C, Garesse Rafael, Gallardo M Esther

Abstract excerpt

Human iPSC line Oex2054SV.4 was generated from fibroblasts of a patient with an optic atrophy 'plus' phenotype associated with a heterozygous mutation in the OPA1 gene. Reprogramming factors OCT3/4, SOX2, CMYC and KLF4 were delivered using a non-integrative methodology that involves the use of Sendai virus.

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Source

Identifiers

PMID: 27346197
DOI: 10.1016/j.scr.2016.03.011

Genes

OPA1
KLF4
SOX2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Generation of a human iPSC line from a patient with an optic atrophy 'plus' phenotype due to a mutation in the OPA1 gene.PMID 27346197Read ↗

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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