Homo sapiens Transcriptome or Gene expression

LMNA-Related Dilated Cardiomyopathy is a severe inherited heart condition caused by DNA mutation in the Lamin A/C gene often leading to heart failure or sudden death. We investigated possible mechanisms of LMNA-Related DCM using induced pluripotent stem cells (iPSC) derived from a family with a heterozygous LMNA c.357-2A>G splice-site mutation. We differentiated one LMNA mutant iPSC line derived from an affected female (Patient) and two non-mutant iPSC lines derived from her unaffected sister (Control) and conducted single-cell RNA sequencing for 12 samples (4 Patient and 8 Control) across seven time points: Day 0, 2, 4, 9, 16, 19, and 30. Our results support disruption of epigenomic developmental programs in LMNA-Related DCM and also demonstrates current challenges of LMNA disease modeling using Patient-derived iPSC.