Fig. 4.

PRKN compound heterozygous variants detected with Bionano in iPSCs and the parental fibroblast. A) The compound heterozygous exon 2 and exon 3–5 deletion was captured with phase. The PRKN exon 2 deletion starts at position 162,338,358 and ends at 162,450,583, the PRKN exon 3–5 deletion starts at 162,029,361 and ends at 162,279,161 and partially overlaps with PACRG; B) Circos plot showing a translocation and other structural variants detected after filtering in the iPSC line from patient iPS-L-3034; C) Circos plot without the translocation present and structural variants detected after filtering in the parental fibroblast line L-3034