A highly penetrant LMNA R541C variant associated with dilated cardiomyopathy leads to dysregulation in metabolism and proliferation pathways in stem cell-derived cardiomyocytes
Thomas Keller, Ci Koehring, Brett Higgins, Jiajia Yang, Faiza Amber Siddiqui, Forouzandeh Farsaei, Kami Kim, Thomas V. McDonald
This study identifies a LMNA R541C variant linked to dilated cardiomyopathy and shows it disrupts metabolism and proliferation pathways in stem cell-derived cardiomyocytes.
bioRxiv · Jul 29, 2026 · PreprintGenomics