Why the study?
There is a lack of early markers and therapeutic alternatives for arrhythmogenic right ventricular dysplasia 9/cardiomyopathy, necessitating in vitro models to better study disease pathways.
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The generation of these hiPSC lines provides a valuable in vitro model for studying the disease pathways of arrhythmogenic right ventricular cardiomyopathy associated with PKP2 mutations.
One of the main signs we do not know enough about arrhythmogenic right ventricular dysplasia 9/cardiomyopathy (ARVCD9, OMIM #609040, autosomal dominant) is the lack of early markers and therapeutic alternatives. To better study disease pathways in vitro, we generated human induced pluripotent stem cell (hiPSC) lines from the father (UKJi006-A) and son (UKJi001-A), who both shared the same heterozygous mutation in the PKP2 gene (OMIM *602861). While the father had a clinical diagnosis of ARVC, the son lacked the ARVC phenotype. To generate hiPSC lines, non-integrating Sendai virus (SeV) vectors expressing the reprogramming factors (OCT4, SOX2, KLF4, and c-MYC) were used for reprogramming patient peripheral blood mononuclear cells (PBMCs).
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Bekhite et al. (2024) studied this question.
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