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


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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Fulgencio-Covián A, Álvarez M, Pepers BA, López-Márquez A, Ugarte M, Pérez B, van Roon-Mom WMC, Desviat LR, Richard E
Journal Stem cell research
Publication Date 2020 Dec;49:102055
PubMed 33128956
DOI 10.1016/j.scr.2020.102055

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