Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients harbouring TTN mutations
Summary
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 investigating the complexity of titin-related cardiomyopathy. Copyright © 2025 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Tan R, Chen YI, Zha Y, Herron T, Haddad F, Sallam K, Wu JC |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2025 Oct;88:103834 |
| PubMed | 40987017 |
| PubMed Central | PMC12781926 |
| DOI | 10.1016/j.scr.2025.103834 |