Population
Isogenic pairs of human induced pluripotent stem cell-derived cardiomyocytes carrying the E99K-ACTC1 cardiac…
Design
Preclinical
Authors
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hiPSC-CM models of E99K-ACTC1 HCM demonstrate arrhythmogenesis; hypothesis-generating for mechanism-based therapies, pending clinical validation.
Isogenic hiPSC-CMs modeling HCM with the E99K-ACTC1 mutation demonstrate arrhythmogenesis that can be effectively rescued with dual dantrolene/ranolazine treatment, highlighting the role of genetic background and age in phenotypic expression.
Smith et al. (2018) studied this question.
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