Generation of human iPS cell line IBCHi001-A from dentatorubral-pallidoluysian atrophy patient's fibroblasts

Stem Cell Res. 2019 Aug:39:101512. doi: 10.1016/j.scr.2019.101512. Epub 2019 Jul 24.

Abstract

Dentatorubral-pallidoluysian atrophy (DRPLA) is an incurable autosomal dominant disease caused by an expansion of a CAG repeats in ATN1 gene encoding atrophin 1 protein. Here we report the generation of IBCHi001-A, an induced pluripotent stem cell (iPSC) line derived from DRPLA patient fibroblasts using non-integrative reprogramming technology with OCT4, SOX2, cMYC and KLF4 reprogramming factors. The pluripotency of iPSC was confirmed by immunocytochemistry and PCR for pluripotency markers and by the ability to form three germ layers in vitro. The established iPSC line offers a useful resource to study the pathogenesis of DPRLA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Blotting, Western
  • Cells, Cultured
  • Fibroblasts / cytology*
  • Fibroblasts / metabolism*
  • Humans
  • Immunohistochemistry
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Kruppel-Like Factor 4
  • Kruppel-Like Transcription Factors / genetics
  • Kruppel-Like Transcription Factors / metabolism
  • Mycoplasma / metabolism
  • Myoclonic Epilepsies, Progressive / metabolism*
  • Octamer Transcription Factor-3 / genetics
  • Octamer Transcription Factor-3 / metabolism
  • Reverse Transcriptase Polymerase Chain Reaction
  • SOXB1 Transcription Factors / genetics
  • SOXB1 Transcription Factors / metabolism

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Kruppel-Like Transcription Factors
  • Octamer Transcription Factor-3
  • POU5F1 protein, human
  • SOX2 protein, human
  • SOXB1 Transcription Factors