期刊
STEM CELL RESEARCH
卷 49, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2020.102055
关键词
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资金
- 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
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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