Hypertrophic cardiomyopathy (HCM) is a disease in which the heart muscle becomes abnormally thick making it difficult for the heart to pump blood. In this study an induced pluripotent stem cells (iPSC) line was derived from peripheral blood mononuclear cells of a 62-year-old male hypertrophic cardiomyopathy (HCM) patient with the mutation of heterozygous pathogenic myosin binding protein C (MYBPC3) c.3369–3370 insC using an episomal method. The generated iPSC line presented normal 46, XY male karyotypes, expressed pluripotent markers and could spontaneously differentiate into triblast cells. This HCM-specific iPSC line could act as a useful tool for studying and modeling hypertrophic cardiomyopathy.

肥厚型心肌病 (HCM) 是一种心肌异常增厚导致心脏泵血困难的疾病。在这项研究中，诱导多能干细胞 (iPSC) 系源自一名 62 岁男性肥厚性心肌病 (HCM) 患者的外周血单核细胞，该患者携带杂合致病性肌球蛋白结合蛋白 C (MYBPC3) c.3369– 突变3370 insC 使用游离方法。生成的 iPSC 系呈现正常的 46、XY 男性核型，表达多能标记，并且可以自发分化为三胚细胞。这种 HCM 特异性 iPSC 系可以作为研究和建模肥厚型心肌病的有用工具。