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

Stem Cell Res. 2019 Oct:40:101566. doi: 10.1016/j.scr.2019.101566. Epub 2019 Aug 29.

Abstract

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aconitate Hydratase / genetics*
  • Aconitate Hydratase / metabolism
  • Cell Differentiation
  • Cell Line / cytology
  • Cell Line / metabolism*
  • Cellular Reprogramming
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Humans
  • Induced Pluripotent Stem Cells / cytology
  • Induced Pluripotent Stem Cells / metabolism*
  • Kruppel-Like Factor 4
  • Male
  • Mutation, Missense
  • Optic Atrophy, Autosomal Dominant / genetics*
  • Optic Atrophy, Autosomal Dominant / metabolism
  • Optic Atrophy, Autosomal Dominant / physiopathology
  • Point Mutation

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • ACO2 protein, human
  • Aconitate Hydratase