Stem Cell Research (Oct 2017)

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

DOI
https://doi.org/10.1016/j.scr.2017.08.017
Journal volume & issue
Vol. 24, no. C
pp. 81 – 84

Abstract

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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.