4.2 Article

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

Journal

STEM CELL RESEARCH
Volume 49, Issue -, Pages -

Publisher

ELSEVIER
DOI: 10.1016/j.scr.2020.102055

Keywords

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Funding

  1. Propionic Acidemia Foundation [PAF107]
  2. Spanish Ministry of Economy, Industry and Competitiveness Agencia Estatal de Investigacion [SAF2016-76004-R]
  3. European Regional Development Fund (Fondos Feder) [SAF2016-76004-R]
  4. Spanish Ministry of Science and Innovation [PID2019-105344RB-I00/AEI/10.13039/501100011033]
  5. Fundacion Ramon Areces
  6. FPI-UAM program

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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.

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