Why the study?
Most HCM cases are linked to MYH7 converter domain mutations leading to varied clinical manifestations, requiring in vitro models to define HCM pathogenesis.
Population
Base-edited hiPSC-derived cardiomyocytes harboring MYH7 c.2167C>T and MYH6 c.2173C>T mutations
Comparison
MYH6/7 mutant hiPSC-CMs vs isogenic control
Design
In vitro molecular and transcriptomic preclinical study
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hiPSC-CM models may enable mechanistic HCM studies; leaves open clinical translation without patient validation.
MYH6/7 mutations in hiPSC-CMs drive early cytoskeletal remodeling and sarcomere disorganization, providing insights into the cellular pathogenesis of hypertrophic cardiomyopathy.
A 2025 study studied this question.
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