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

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

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.

Bibliographic Details
Main Authors: Francisco Zurita-Díaz, Teresa Galera-Monge, Ana Moreno-Izquierdo, Marta Corton, Carmen Ayuso, Rafael Garesse, M. Esther Gallardo
Format: Article
Language:English
Published: Elsevier 2017-10-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506117301794
Description
Summary: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.
ISSN:1873-5061
1876-7753

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