Fig. 3

Estimated mtDNA genome copy number in PBD-ZSD patient and healthy control-derived cells. The numbers of mtDNA genomes per cell were estimated by quantitative PCR in triplicate. Total DNA isolated from human 143B cells and human 143B rho cells (devoid of mtDNA) served as positive (+) and negative (−) controls. Fibroblast and iPSC DNA samples were analyzed on different 96-well plates with embedded positive controls (grey) yielding similar results (330 and 267 mtDNA genomes per cell, respectively). All data from the fibroblast (light blue: controls; dark blue: patients) and iPSC (light red: controls; dark red: patients) plates were normalized so that internal positive control provided an estimate of 297 mtDNA genomes per cell (average of mtDNA estimates above). Error bars represent the high and low estimates of mtDNA genomes per cell in a given sample. Fibroblast control4 is derived from fibroblast culture AG04446 obtained from a 48-year-old healthy male donor (Coriell Cell Repositories). iPSC induced pluripotent stem cell