Generation of a gene-corrected human isogenic line (UAMi006-A) from propionic acidemia patient iPSC with an homozygous mutation in the PCCB gene using CRISPR/Cas9 technology

Stem Cell Res. 2020 Dec:49:102055. doi: 10.1016/j.scr.2020.102055. Epub 2020 Oct 17.


Propionic acidemia (PA) is an inherited metabolic disease caused by mutations in the PCCA and PCCB genes. We have previously generated an induced pluripotent stem cell (iPSC) line (UAMi004-A) from a PA patient with the c.1218_1231del14ins12 (p.Gly407Argfs*14) homozygous mutation in the PCCB gene. Here, we report the generation of the isogenic control in which the mutation was genetically corrected using CRISPR/Cas9 technology. Off-target editing presence was excluded and the iPSCs had typical embryonic stem cell-like morphology and normal karyotype that expressed pluripotency markers and maintained their in vitro differentiation potential.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • CRISPR-Cas Systems / genetics
  • Humans
  • Induced Pluripotent Stem Cells* / metabolism
  • Methylmalonyl-CoA Decarboxylase / genetics
  • Mutation / genetics
  • Propionic Acidemia* / genetics
  • Technology


  • Methylmalonyl-CoA Decarboxylase