The generation of these iPSC lines provides a valuable in vitro model for studying the pathogenic mechanisms of the PKP2:c.355delT variant in arrhythmogenic right ventricular cardiomyopathy.
These iPSC lines enable ARVC mechanistic studies; leaves open clinical translation pending validation.
Induced pluripotent stem cell lines (iPSC) FAMRCi013-A, FAMRCi013-B, and FAMRCi013-C were generated by reprogramming peripheral blood mononuclear cells from a patient with the genetic variant PKP2:c.355delT. The iPSC lines were characterized according to the general standards and showed the pluripotent cells’ properties: they had characteristic morphology, normal karyotype (46,XY), expressed markers typical for pluripotent cells (OCT4, NANOG, SOX2, SSEA4), and had the ability to produce derivatives of three germ layers during directed differentiation. These lines can be used to study the likely pathogenic variant PKP2:c.355delT associated with arrhythmogenic right ventricular cardiomyopathy.
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Nikitina et al. (2025) studied this question.
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