Key result
An iPSC cell line (USFi004-A) was successfully generated from a patient with ARVC carrying a heterozygous PKP2 mutation, expressing pluripotent markers and differentiating into three germ layers.
The successful generation of an ARVC patient-derived iPSC line with a PKP2 mutation provides a valuable in vitro model for studying the disease mechanisms.
Patient-derived ARVC iPSC line enables disease modeling; leaves open mechanistic validation and clinical translation.
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal dominant inherited disease, with variable penetrance and expressivity. Currently, more than 14 different genetic loci have been reported for ARVC, the majority being desmosomal genes like Plakophilin-2 (PKP2). Here, we generated an iPSC cell line bearing a pathogenic heterozygous mutation in PKP2 (c.1799delA) from a patient affected by ARVC. Peripheral blood mononuclear cells were reprogrammed by Sendai virus vectors encoding KOS, KLF4, and c-MYC. Derived iPSCs expressed pluripotent markers, showed intact karyotype and demonstrated the ability to differentiate into three germ layers.
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Yang et al. (2021) studied Arrhythmogenic right ventricular cardiomyopathy (ARVC) (n=1). Generation of iPSC cell line (USFi004-A) was evaluated on Generation and characterization of iPSC cell line. An iPSC cell line (USFi004-A) was successfully generated from a patient with ARVC carrying a heterozygous PKP2 mutation, expressing pluripotent markers and differentiating into three germ layers.
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