m.3243A>
G is the most common pathogenic mtDNA mutation. High energy-demanding organs, such as heart, are usually involved in mitochondria diseases. However, whether and how m.3243A>
G affects cardiomyocytes remain unknown. We have established patient-specific iPSCs carrying m.3243A>
G and induced cardiac differentiation. Cardiomyocytes with high m.3243A>
G burden exhibited hypertrophic phenotype. This point mutation is localised in MT-TL1 encoding tRNA