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.
Stem cell research - 1 Dec 2020
Fulgencio-Covián Alejandro, Álvarez Mar, Pepers Barry A, López-Márquez Arístides, Ugarte Magdalena, Pérez Belén, van Roon-Mom Willeke M C, Desviat Lourdes R, Richard Eva
Abstract excerpt
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...
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