Why the study?
Hypertrophic cardiomyopathy is the most common monogenic cardiovascular disorder, motivating the generation of disease-specific human induced pluripotent stem cell lines.
Population
Dermal fibroblasts from an HCM patient with the p. R663H (c. 1988 G > A) mutation in MYH7
Design
Stem cell line generation study
Authors
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New hiPSC line enables HCM modeling; leaves open extension to hypertension insights or clinical use.
The successful generation of an hiPSC line from an HCM patient with an MYH7 mutation provides a valuable cellular model for studying the disease mechanisms of hypertrophic cardiomyopathy.
Li et al. (2020) studied this question.
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