Generation of CRISPR/Cas9 edited human induced pluripotent stem cell line carrying the heterozygous p.H695VfsX5 frameshift mutation in the exon 10 of the PKP2 gene.
Stem Cell Res
; 76: 103341, 2024 Apr.
Article
em En
| MEDLINE
| ID: mdl-38382214
ABSTRACT
Loss-of-function mutations in the PKP2 gene are associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), a rare cardiac disease associated with a poor prognosis. The search for therapeutics and a better understanding of the molecular mechanisms of the disease require the development of cellular modelling. Using CRISPR/Cas9, we generated a hiPSC line with heterozygous 7-bp deletion in exon 10 of PKP2 (p.H695VfsX5). We demonstrated that hiPSCs were fully pluripotent and showed a high rate of differentiation into cardiomyocytes (iPS-CM). We also showed that PKP2 protein was expressed at the plasma membrane, with an overall decreased expression in iPS-CM indicating haploinsufficiency.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Mutação da Fase de Leitura
/
Células-Tronco Pluripotentes Induzidas
Limite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Ano de publicação:
2024
Tipo de documento:
Article