Cardiomyocyte ST-wave depression indel characterisation (NuTi Capture-C)

A rare mutation associated with familial ST-wave depression in ECG was predicted to generate a de novo enhancer. This mutation was generated heterozygously in iPSC lines to characterise it's molecular effects by ATAC-seq, Capture-C and RNA-seq NuTi Capture-C was performed on triplicates cardiomyocytes differentiated from IPSC with either WT or heterozygous (Mut) for the ST-wave depression associated indel. Capture was performed on multi-plexed libraries targeting either promoters or enhancers.