Establishment of three iPSC lines from fibroblasts of a patient with Aicardi Goutières syndrome mutated in RNaseH2B

Stem Cell Res. 2019 Dec:41:101620. doi: 10.1016/j.scr.2019.101620. Epub 2019 Oct 22.

Abstract

We report the generation of three isogenic iPSC clones (UNIBSi007-A, UNIBSi007-B, and UNIBSi007-C) obtained from fibroblasts of a patient with Aicardi Goutières Syndrome (AGS) carrying a homozygous mutation in RNaseH2B. Cells were transduced using a Sendai virus based system, delivering the human OCT4, SOX2, c-MYC and KLF4 transcription factors. The resulting transgene-free iPSC lines retained the disease-causing DNA mutation, showed normal karyotype, expressed pluripotent markers and could differentiate in vitro toward cells of the three embryonic germ layers.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Autoimmune Diseases of the Nervous System / genetics*
  • Autoimmune Diseases of the Nervous System / pathology*
  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line / pathology*
  • Child
  • Female
  • Fibroblasts / pathology*
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Kruppel-Like Factor 4
  • Mutation / genetics*
  • Nervous System Malformations / genetics*
  • Nervous System Malformations / pathology*
  • Reproducibility of Results
  • Ribonuclease H / genetics*

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • ribonuclease HII
  • Ribonuclease H

Supplementary concepts

  • Aicardi-Goutieres syndrome