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Functional characterization of cardiomyopathies using patient specific induced pluripotent stem cells (hiPSCs)

We have generated hiPSCs with retroviral vectors from patient fibroblasts harboring the mutations in two sarcomeric genes respectively. Verification of pluripotency was established using various assays, including pluripotency marker expression, promoter methylation status, in vitro embryoid body differentiation and in vivo teratoma assays. These hiPSCs will be differentiated into cardiomyocytes and subsequently purified by cell sorting using the cardiomyocyte-specific cell surface marker SIRPĪ±. The cardiomyocytes differentiated from these patient-derived iPSCs will be utilized to study mechanisms including hypertrophic parameters and for candidate drug screening.