Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients harbouring TTN mutations.

ABSTRACT: Dilated cardiomyopathy (DCM) is a severe form of heart disease characterized by ventricular enlargement and impaired contractile function, often with a genetic basis. Truncating mutations in TTN, encoding the sarcomere protein titin, are one of the most common causes of DCM. To model titin-related DCM in vitro, we have established two human induced pluripotent stem cell (iPSC) lines from individuals who were diagnosed with DCM, each carrying a heterozygous truncating mutation within the TTN coding region. We have confirmed that both cell lines are normal in cell morphology, robustly express key pluripotency markers, maintain a normal diploid karyotype, and can differentiate into all three primary germ layers. These patient-specific iPSC lines represent an invaluable resource for investigat

SUBMITTER: Tan R 

PROVIDER: S-EPMC12781926 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature