Why the study?
Arrhythmogenic cardiomyopathy is an inherited heart muscle disease commonly caused by alterations in the PKP2 gene, motivating the generation of cellular models.
The generation of these PKP2-mutated iPSC lines provides a valuable in vitro model for studying the pathophysiology of arrhythmogenic cardiomyopathy.
iPSC lines with PKP2 mutations model ACM in vitro; hypothesis-generating for mechanisms, leaves open clinical translation.
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.
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Amín et al. (2023) studied this question.
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