Figure 2.

Transmitted heteroplasmic group C variants affect coding regions more frequently and are characterized by a higher transversion rate

Twenty-six iPSC clones at an early passage, with 7 of these additionally at later passages, as well as the corresponding parental cell population of the total 10 donors, were subjected to mtDNA sequencing. All variants were classified into three groups. Variants of group A, non-transmitted variants, were detected only in parental cell populations. Group B variants were homoplasmic in parental cell population and iPSCs derived thereof. Group C, heteroplasmic variants, were detected in iPSC clones with AF > 0.02 at any passage but were less frequent in the corresponding parental cell population. N = 10 donors.

(A) Total number of non-transmitted, homoplasmic, and heteroplasmic variants that affected regulatory, RNA coding, or coding regions.

(B) Mutational spectra. Ts, transition; Tv, transversion. Transitions are marked in bold.