TBX5 and Holt-Oram syndrome: For instance, integrating patient-derived iPSC models of CHD with single-cell profiling has been informative–in one study, iPSCs with a TBX5 mutation (modeling Holt-Oram syndrome) were differentiated to cardiomyocytes and analyzed by scRNA-seq, revealing delayed upregulation of conduction system genes and altered NOTCH signaling in the mutant cells (Kathiriya et al., 2021).