Fig. 5.

PRKN compound heterozygous variants detected with Bionano in iPSCs. A) A patient-derived iPSC line (iPS-L-3244) with PRKN exon 1 deletion. PRKN exon 1 deletion starts at position 162,716,506 and ends at 162,792,085 and partially overlaps with PACRG.; B) A patient-derived iPSC line (iPS-L-10312) with PRKN exon 4 deletion. PRKN exon 4 deletion starts at position 162,198,660 and ends at 162,225,645; C) Circos plot showing structural variants detected after filtering in iPS-L-3244; D) Circos plot with structural variants detected after filtering in iPS-L-10312