Electrophysiological defects in a novel patient-derived stem cell model of desmoglein-2 mutant ARVC

Here we developed a novel human induced pluripotent stem cell (hiPSC) model of ARVC to gain insight into the electrical and biomolecular effects of desmoglein-2 (DSG2) mutation in cardiomyocytes. hiPSC-derived cardiomyocytes (hiPSC-CMs) were generated from peripheral blood mononuclear cells donated by an ARVC patient with a pathogenic variant in DSG2, c.2358delA. DSG2Mut hiPSC-CMs were compared against a control line via bulk RNA-seq.