Why the study?
The clinical significance of numerous cardiovascular gene variants remains to be determined, including the MYBPC3 p.N515del variant of unknown significance found in hypertrophic cardiomyopathy.
Population
Patient-specific iPSCs carrying the MYBPC3 p.N515del variant and healthy donor iPSCs
Comparison
Presence vs absence of the MYBPC3 p.N515del variant in isogenic iPSC-derived cardiomyocytes
Design
Preclinical in vitro isogenic cell study using CRISPR/Cas9
Authors
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iPSC-CRISPR models may clarify VUS pathogenicity in HCM; leaves open clinical translation pending further validation.
The generation of isogenic iPSC lines demonstrates that the p.N515del variant in MYBPC3 causes increased cardiomyocyte size, supporting its pathogenic role in hypertrophic cardiomyopathy.
Павлова et al. (2024) studied this question.
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