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

Authors

ZURITA DIAZ, FRANCISCO, Galera-Monge, Teresa , Moreno-Izquierdo, Ana , Corton, Marta , Ayuso, Carmen , Garesse, Rafael , Esther Gallardo, M.

External publication

No

Means

Stem Cell Res.

Scope

Article

Nature

Científica

JCR Quartile

1

SJR Quartile

1

JCR Impact

3.902

SJR Impact

1.214

Publication date

01/10/2017

ISI

000416090100018

Abstract

We have generated a human iPSC line IISHDOi003-A from fibroblasts of a patient with a dominant optic atrophy 'plus' phenotype, harbouring a heterozygous mutation, c.1635C> A; p.Ser545Arg, in the OPA1 gene. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using Sendai virus. (C) 2017 The Authors. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license

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