CRISPR/Cas9-edited PKP2 knock-out (JMUi001-A-2) and DSG2 knock-out (JMUi001-A-3) iPSC lines as an isogenic human model system for arrhythmogenic cardiomyopathy (ACM)

Arrhythmogenic cardiomyopathy (ACM) is characterized by fibro-fatty replacement of the myocardium, heart failure and life-threatening ventricular arrhythmias. Causal mutations were identified in genes encoding for proteins desmosomes, predominantly plakophilin-2 (PKP2) desmoglein-2 (DSG2). We generated gene-edited knock-out iPSC lines PKP2 (JMUi001-A-2) DSG2 (JMUi001-A-3) using CRISPR/Cas9 system a healthy control background (JMUi001-A). Stem cell-like morphology, robust expression pluripotency markers, embryoid body formation normal karyotypes confirmed generation high quality iPSCs to provide novel isogenic human vitro model mimicking ACM when differentiated into cardiomyocytes.