Generation of a disease-specific iPS cell line derived from a patient with Charcot-Marie-Tooth type 2K lacking functional GDAP1 gene

Stem Cell Res. 2017 Jan;18:1-4. doi: 10.1016/j.scr.2016.11.017. Epub 2016 Dec 2.

Abstract

Human CMT2-FiPS4F1 cell line was generated from fibroblasts of a patient with Charcot-Marie-Tooth disease harbouring the following mutations in the GDAP1 gene in heterozygosis: p.Q163X/p.T288NfsX3. This patient did not present mutations in the PM22, MPZ or GJB genes. Human reprogramming factors OCT3/4, KLF4, SOX2 and C-MYC were delivered using a non-integrative methodology that involves the use of Sendai virus.

MeSH terms

  • Base Sequence
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming*
  • Charcot-Marie-Tooth Disease / genetics
  • Charcot-Marie-Tooth Disease / metabolism
  • Charcot-Marie-Tooth Disease / pathology*
  • DNA Mutational Analysis
  • Fibroblasts / cytology
  • Fibroblasts / metabolism
  • Genetic Vectors / genetics
  • Genetic Vectors / metabolism
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Male
  • Microscopy, Fluorescence
  • Nerve Tissue Proteins / genetics*
  • Polymorphism, Single Nucleotide
  • Sendai virus / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism

Substances

  • GDAP protein
  • Nerve Tissue Proteins
  • Transcription Factors