Work

Generation of two induced pluripotent stem cell lines from female patients harboring MYH7 mutations with hypertrophic cardiomyopathy

Year: 2026

Type: article

Abstract: Hypertrophic cardiomyopathy (HCM) is a cardiac disorder marked by left ventricular thickening and impaired diastolic function, often caused by truncating variants in MYH7 gene. In this work, we generated two human iPSC lines from female HCM patients, each carrying a distinct heterozygous MYH7 mutation (c.611G > T and c.505A > G). Both lines displayed a normal karyotype, typical pluripotent stem cell morphology, strong expression of key pluripotency markers, and retained the capacity to differentiate into cell types representing all three germ layers. These patient-specific female iPSC lines provide a valuable platform to explore inter-patient variability and the mechanistic diversity underlying MYH7-associated cardiomyopathies.

Source: Stem Cell Research

DOI: 10.1016/j.scr.2026.103979