Human iPSC-derived cardiomyocyte from a patient with dilated phase of hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder characterized by ventricular wall hypertrophy and diastolic dysfunction. Most patients with HCM are often a slowly progressive disease and may be asymptomatic; however, some progress to the dilated phase of HCM (D-HCM), and have a poorer prognosis. This study established disease-specific human induced pluripotent stem cells (iPSCs) from a patient with D-HCM harboring a truncating mutation in MYBPC3, and compared transcriptomes of iPSCs-derived cardiomyocytes between healthy control and D-HCM. We established D-HCM patient-derived iPSCs, and purchased two cell lines, HPS3354 and HPS3386, from the RIKEN BioResource Center and used as healthy control cells. To differentiate iPSCs into cardiomyocytes, iPSCs were treated with 8 µM CHIR99021 (GSK3β inhibitor) during 24 hours (day 0). At day 3, the cells were treated with 2 µM Wnt-C59 (Wnt inhibitor) during 48 hours. After purification and maturation, iPSC-CMs were collected approximately 50 days after cardiac differentiation (Days 45-55), and total RNA was extracted.