Generation of a human iPSC line from a patient with a mitochondrial encephalopathy due to mutations in the GFM1 gene

Stem Cell Res. 2016 Jan;16(1):124-7. doi: 10.1016/j.scr.2015.12.019. Epub 2015 Dec 29.

Abstract

Human iPSC line GFM1SV.25 was generated from fibroblasts of a child with a severe mitochondrial encephalopathy associated with mutations in the GFM1 gene, encoding the mitochondrial translation elongation factor G1. Reprogramming factors OCT3/4, SOX2, CMYC and KLF4 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

  • Base Sequence
  • Cell Differentiation
  • Cell Line
  • Cellular Reprogramming
  • DNA Mutational Analysis
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Kruppel-Like Factor 4
  • Microscopy, Fluorescence
  • Mitochondrial Encephalomyopathies / metabolism
  • Mitochondrial Encephalomyopathies / pathology*
  • Mitochondrial Proteins / genetics*
  • Peptide Elongation Factor G / genetics*
  • Plasmids / metabolism
  • Polymorphism, Single Nucleotide
  • Sendai virus / genetics
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Transfection

Substances

  • GFM1 protein, human
  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Mitochondrial Proteins
  • Peptide Elongation Factor G
  • Transcription Factors

Supplementary concepts

  • Mitochondrial encephalopathy