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


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. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Amin G, Castañeda SL, Zabalegui F, Belli C, Atorrasagasti C, Miriuka SG, Moro LN
Journal Stem cell research
Publication Date 2023 Sep;71:103157
PubMed 37393721
DOI 10.1016/j.scr.2023.103157

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