Authors: Anthony M PETTINATO, Feria A Ladha, David Mellert, Nicholas Legere, Rachel Cohn, Robert Romano, Ketan Thakar, Yu-Sheng Chen, John T Hinson
Published: 2020-10-27
DOI: 10.1161/res.127.suppl_1.mp100
Source: Full article
Sarcomere gene mutations are the most common inheritable risk factor for heart failure, a disease with high morbidity and mortality, yet the pathogenicity of a large proportion of sarcomere gene variants remains unknown. The knowledge of which and how sarcomere gene variants result in heart failure would provide valuable prognostic and diagnostic information for individuals harboring sarcomere gene variants. Here, we developed a transgenic human cardiomyocyte model that enables scalable delivery of genetic variants in cardiac troponin T (cTnT; encoded by