Human embryonic stem cells from a preimplantation genetic diagnosis-tested and affected embryo with mutation in myosin binding protein C3 phenocopies hypertropic cardiomyopathy

Abstract

Human embryos carrying natural mutations causative of diseases are typically discarded following preimplantation genetic diagnosis (PGD). However, PGD-tested and affected embryos may be used for derivation of disease-specific human embryonic stem cells (hESC) that may represent powerful in vitro models to study disease development, progression, and screen potential therapeutics. Aims were to produce genetically normal and hypertrophic cardiomyopathy (HCM) disease-specific hESC lines, direct their differentiation to cardiomyocytes, and determine if the disease-specific hESC line phenocopied HCM.