Generation of induced pluripotent stem cell (iPSC) line from Charcot-Marie-Tooth disease patient with MPZ mutation (CMT1B)

Stem Cell Res. 2017 Oct:24:5-7. doi: 10.1016/j.scr.2017.08.002. Epub 2017 Aug 5.

Abstract

Charcot-Marie-Tooth disease (CMT1B) is an inherited neurological disorder caused by mutation of the myelin protein zero (MPZ) gene. We generated an induced pluripotent stem cell (iPSC) line from an 81-year-old patient with CMT1B by electroporating of lymphoblastoid cell lines with episomal plasmids encoding OCT4, SOX2, KLF4, L-MYC, LIN28, and p53-targeting shRNA. The established iPSCs expressed various pluripotency markers, demonstrated the potential to differentiate into cells of the three germ layers in vitro, had a normal karyotype and retained the MPZ mutation.

Publication types

  • Case Reports

MeSH terms

  • Aged, 80 and over
  • Cell Differentiation
  • Cell Line
  • Charcot-Marie-Tooth Disease / genetics*
  • Humans
  • Induced Pluripotent Stem Cells / metabolism*
  • Kruppel-Like Factor 4
  • Male
  • Mutation
  • Myelin P0 Protein / genetics*
  • Myelin P0 Protein / metabolism
  • Transcription Factors / metabolism*

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • MPZ protein, human
  • Myelin P0 Protein
  • Transcription Factors