Generation of two edited iPSCs lines by CRISPR/Cas9 with point mutations in PKP2 gene for Arrhythmogenic Cardiomyopathy in vitro modeling

AMIN, GUADALUPE; LUCÍA CASTAÑEDA, SHEILA; ZABALEGUI, FEDERICO; BELLI, CAROLINA; ATORRASAGASTI, CATALINA; MIRIUKA, SANTIAGO GABRIEL; NATALIA MORO, LUCÍA

STEM CELL RESEARCH

ELSEVIER SCIENCE BV

Año: 2023

1873-5061

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.