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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.

Francisco Zurita-Díaz | Teresa Galera-Monge | Ana Moreno-Izquierdo | Marta Corton | Carmen Ayuso | Rafael Garesse | M Esther Gallardo
Stem cell research | 2017

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.

Pubmed ID: 29034899

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