iPSC-Based Modeling of Variable Clinical Presentation in Hypertrophic Cardiomyopathy

Abstract

Our results indicate that the p.Ile1927Phe variant of unknown significance in <i>MYH7</i> can be considered as a modifier of HCM expressivity when found in combination with truncating variants in <i>MYBPC3</i>. Overall, our studies show that iPSC-based modeling of clinically discordant subjects provides a unique platform to functionally assess the effect of genetic modifiers.