Generation of an Induced Pluripotent Stem Cell Line ICGi047-A by Reprogramming Peripheral Blood Mononuclear Cells of a Hypertrophic Cardiomyopathy Patient with the Pathogenic Variant c.966G>A in MYBPC3 Gene

Hypertrophic cardiomyopathy (HCM) is one of the most common cardiovascular diseases and occurs with frequency 1 : 500. Up to 60% of the cases are hereditary and pathogenic variants of MYH7 and MYBPC3 sarcomeric genes induced HCM in the most cases. The molecular mechanisms of the disease development are not fully understood. An iPSC line was generated from a patient with HCM, caused by a pathogenic variant c.966G>A (p.W322*) of the MYBPC3 gene, which encodes truncated sarcomere proteins. The reprogramming was achieved using non-integrating episomal vectors expressing OCT4, KLF4, L-MYC, SOX2, LIN28 and mp53DD. The resulting iPSC line (ICGi047-A) showed pluripotent status, normal karyotype and spontaneous differentiation into three germ layers. An in vitro cell model of hypertrophic cardiomyopathy, based on cardiomyocytes derived from the iPSC line ICGi047-A, will facilitate understanding of the mechanisms underlying the development of the disease.