Stem Cell Research (Oct 2019)

Derivation of a human DOA iPSC line, IISHDOi006-A, with a mutation in the ACO2 gene: c.1999G>A; p.Glu667Lys

  • Victoria Cerrada,
  • Marta García-López,
  • Ana Moreno-Izquierdo,
  • Cristina Villaverde,
  • Olga Zurita,
  • Maria Inmaculada Martin-Merida,
  • Joaquín Arenas,
  • Carmen Ayuso,
  • M. Esther Gallardo

Journal volume & issue
Vol. 40

Abstract

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Human iPSC line, IISHDOi006-A, was obtained from fibroblasts of a patient with Dominant Optic Atrophy (DOA) carrying a heterozygous mutation in the gene ACO2: c.1999G>A; p.Glu667Lys. Reprogramming factors Oct3/4, Sox2, Klf4, and c-Myc were delivered using a non-integrative methodology that involves the use of Sendai virus.