Fig. 4: Editing of hESCs resulted in inversion of superenhancer target.

Method of genome editing H9 cells (a). Location of guide RNAs gRNA1 and gRNA6 relative to the WT orientation (b). CTCF motifs are shown in color by orientation, blue forward and red reverse. Screening strategy for determining whether clones are heterozygous for the 1/6 deletion and determining if a clone contains an inversion of the targeted region, orientation of hemizygous inversion clone is shown (c). HiC interactions in H9-derived CNCCs from WT (d- left panel) and clone with hemizygous inversion (d- right panel). The HiC plot made for INV used alignment to a custom version of the hg19 genome with the specific inversion on chromosome 7 introduced. Strong contacts in WT CNCCs are marked in the left panel with light blue boxes. Novel contacts created by inversion are marked in the right panel with red arrows.