Generation of two edited iPSCs lines by CRISPR/Cas9 with point mutations in PKP2 gene for arrhythmogenic cardiomyopathy in vitro modeling.
Stem Cell Res
; 71: 103157, 2023 09.
Article
en En
| MEDLINE
| ID: mdl-37393721
ABSTRACT
The arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disease characterized by the progressive replacement of contractile myocardium by fibro-fatty adipose tissue, that generates ventricular arrhythmias and sudden death in patients. The ACM has a genetic origin with alterations in desmosomal genes with the most commonly mutated being the PKP2 gene. We generated two CRISPR/Cas9 edited iPSCs lines, one iPSC line with a point mutation in PKP2 reported in patients with ACM and another iPSC line with a premature stop codon to knock-out the same gene.
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Displasia Ventricular Derecha Arritmogénica
/
Células Madre Pluripotentes Inducidas
/
Cardiomiopatías
Límite:
Humans
Idioma:
En
Revista:
Stem Cell Res
Año:
2023
Tipo del documento:
Article
País de afiliación:
Argentina