Generation of two induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYBPC3 mutations

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Authors: Catherine A. Wu, Matthew A. Wu, Shane R. Zhao, Junyi Sun, Amira G Flores-Banuelos, Parker Walther, Matthew Wheeler, Nazish Sayed
Cited by: 1
References: 5

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