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

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.

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Publication Details

Journal
Stem Cell Research
Published
2026-04-01
DOI
https://doi.org/10.1016/j.scr.2026.103979
Primary Topic
Cardiomyopathy and Myosin Studies
Type
article
Field-Weighted Citation Impact
0.00

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article

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

Ethan Ashley, Ping Xu, ASM Nawshad Uddin Ahmed, Thulaj Meharwade et al.
Stem Cell Research
Cardiomyopathy and Myosin Studies
article

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

Ethan Ashley, Ping Xu, ASM Nawshad Uddin Ahmed, Thulaj Meharwade, Victoria N. Parikh
article en

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.

Stem Cell ResearchVol. 94
Cardiovascular Institute of the South (US), Stanford Medicine (US), Stanford University (US)
California Institute of Regenerative Medicine, National Institutes of Health
Gender equality
Openalex Percentile: Top 26%
Cardiomyopathy and Myosin Studies
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