Figure 4.

Analysis of iPSC mtDNA quantity and quality by LR-PCR and qPCR

(A) LR-PCR analysis of large-scale mtDNA deletions in the 4 iPSC lines. +ve, cybrid DNA with deleted mtDNA. B, no DNA control. (B) Quantification of WT mtDNA levels (%) via qPCR using mtDNA genes MTND4 and MTND1. MTND4 quantity was normalized to MTND1 levels and then to WT control. N = 6 samples per genotype. Bars represent mean WT mtDNA % ± SEM. ∗∗∗∗p < 0.0001 versus DOA-iPSCs. (C) OPA1 mutation has no effect on mtDNA copy number in DOA-iPSCs. MtDNA copy number was quantified by the ratio of MTND1 versus the geometric mean of the number copies of nuclear DNA genes GAPDH and B2M. n = 6 samples per cell line.