Establishment and characterization of induced pluripotent stem cells from an individual with familial hypertrophic cardiomyopathy carrying the MYBPC3 c.772G>A mutation

Abstract

Abstract Familial hypertrophic cardiomyopathy (HCM), the most common genetic heart disorder, is defined by left ventricular hypertrophy in individuals without abnormal loading conditions. This condition can progress to heart failure and sudden cardiac death. In the context of heart disease, availability of patient heart tissues is scarce and hampers cardiac research progression. An alternative is the generation of induced pluripotent stem cells (iPSCs) from patients, that can be differentiated into cardiac cells and used to study disease mechanisms and regenerative medicine approaches as well as platforms for drug development and toxicity assays. In this study, we generated two induced pluripotent stem cell lines from peripheral blood mononuclear cells (PBMCs) of a 64-year-old female carrying the MYBPC3 c.772G > A HCM pathogenic splicing mutation. The generated iPSC lines exhibit a normal karyotype and display hallmark characteristics of pluripotency, including the ability to undergo trilineage differentiation. These new iPSC lines provide a valuable resource for understanding the role of the MYBPC3 c.772G > A mutation in initiating HCM and exploring potential targeted therapeutic strategies.