Cardiomyocyte ST-wave depression indel characterisation (ATAC-seq)

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 ATAC-seq was performed on cardiomyocytes differentiated from iPSC carrying the identified indel heterozygously to identify open chromatin sites.