Generation and characterization of a human iPSC line (UAMi004-A) from a patient with propionic acidemia due to defects in the PCCB gene

Stem Cell Res. 2019 Jul:38:101469. doi: 10.1016/j.scr.2019.101469. Epub 2019 May 22.

Abstract

A human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia that has a homozygous mutation (c.1218_1231del14ins12 (p.G407 fs)) in the PCCB gene. Reprogramming factors OCT3/4, SOX2, KLF4 and c-MYC were delivered using a non-integrative method based on the Sendai virus. Once established, iPSCs have shown full pluripotency, differentiation capacity and genetic stability. The generated iPSC line represents a useful tool to study the pathomechanisms underlying the deficiency.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cell Line
  • Homozygote*
  • Humans
  • Induced Pluripotent Stem Cells* / enzymology
  • Induced Pluripotent Stem Cells* / pathology
  • Kruppel-Like Factor 4
  • Methylmalonyl-CoA Decarboxylase* / genetics
  • Methylmalonyl-CoA Decarboxylase* / metabolism
  • Mutation*
  • Propionic Acidemia* / enzymology
  • Propionic Acidemia* / genetics
  • Propionic Acidemia* / pathology

Substances

  • KLF4 protein, human
  • Kruppel-Like Factor 4
  • Methylmalonyl-CoA Decarboxylase