Journal
STEM CELL RESEARCH
Volume 49, Issue -, Pages -Publisher
ELSEVIER
DOI: 10.1016/j.scr.2020.102055
Keywords
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Funding
- Propionic Acidemia Foundation [PAF107]
- Spanish Ministry of Economy, Industry and Competitiveness Agencia Estatal de Investigacion [SAF2016-76004-R]
- European Regional Development Fund (Fondos Feder) [SAF2016-76004-R]
- Spanish Ministry of Science and Innovation [PID2019-105344RB-I00/AEI/10.13039/501100011033]
- Fundacion Ramon Areces
- 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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