Generation of a human iPSC line from a patient with a defect of intergenomic communication

Stem Cell Res. 2016 Jan;16(1):120-3. doi: 10.1016/j.scr.2015.12.016. Epub 2015 Dec 28.

Abstract

Human iPSC line PG64SV.2 was generated from fibroblasts of a patient with a defect of intergenomic communication. This patient harbored a homozygous mutation (c.2243G>C; p.Trp748Ser) in the gene encoding the catalytic subunit of the mitochondrial DNA polymerase gamma gene (POLG). Reprogramming factors Oct3/4, Sox2, Klf4, and cMyc 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
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase / genetics*
  • Female
  • Humans
  • Induced Pluripotent Stem Cells / cytology*
  • Induced Pluripotent Stem Cells / metabolism
  • Karyotype
  • Kruppel-Like Factor 4
  • Microscopy, Fluorescence
  • Plasmids / metabolism
  • Polymorphism, Single Nucleotide
  • Transcription Factors / genetics
  • Transcription Factors / metabolism
  • Transfection

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Transcription Factors
  • DNA Polymerase gamma
  • DNA-Directed DNA Polymerase
  • POLG protein, human