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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
Stem cell research, December 2020, 2020-12-00, 20201201, 2020-12-01, Letnik: 49Journal Article
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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Leto | Faktor vpliva | Izdaja | Kategorija | Razvrstitev | ||||
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JCR | SNIP | JCR | SNIP | JCR | SNIP | JCR | SNIP |
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in: SICRIS
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