Generation and characterization of a human iPSC line from a patient with propionic acidemia due to defects in the PCCA gene

Stem Cell Res. 2017 Aug:23:173-177. doi: 10.1016/j.scr.2017.07.021. Epub 2017 Jul 22.

Abstract

Human induced pluripotent stem cell (iPSC) line was generated from fibroblasts of a patient with propionic acidemia carrying mutations in the PCCA gene: c.1899+4_1899+7delAGTA; p.(Cys616_Val633del) and c.1430--?_1643+?del; p.(Gly477Glufs*9). 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.

MeSH terms

  • Base Sequence
  • Cell Culture Techniques / methods*
  • Cell Line
  • Humans
  • Induced Pluripotent Stem Cells / pathology*
  • Kruppel-Like Factor 4
  • Methylmalonyl-CoA Decarboxylase / genetics*
  • Propionic Acidemia / pathology*
  • Reproducibility of Results

Substances

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