Generation of two induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYBPC3 mutations
Abstract
Hypertrophic cardiomyopathy (HCM) is a prevalent inherited cardiac disorder characterized by left ventricular hypertrophy and contractile dysfunction. Mutations in sarcomeric genes, particularly cardiac myosin-binding protein C (MYBPC3), are a leading cause of HCM. Here, we generated two induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells of patients carrying distinct MYBPC3 mutations (c.2490dupT and c.1800delA). Both lines displayed normal morphology, stable karyotypes, robust expression of pluripotency markers, and trilineage differentiation potential. These patient-specific iPSC lines provide a valuable platform for modeling MYBPC3-associated HCM and enable mechanistic and therapeutic studies of inherited cardiac disease.
Fields of Study & Subjects
Cardiomyopathy and Myosin Studies
Congenital heart defects research
Cardiac electrophysiology and arrhythmias
Publication details
- Journal / source
- Stem Cell Research
- Publisher
- Elsevier BV
- Volume
- 94
- Pages
- 103982–103982
- Publication date
- 1 April 2026
- Language
- EN