Table 1. Summary of mtDNA mutations identified within iPSCs.
| iB4 | iB5 | iPS2 | iPS4 | |||
|---|---|---|---|---|---|---|
| Frequency | ||||||
| Homoplasmies | ||||||
| Base substitution | 2 | 1 | 53 | 55 | ||
| Single insertion | 0 | 1 | 3 | 2 | ||
| Single deletion | 0 | 1 | 3 | 3 | ||
| Total | 2 | 3 | 59 | 60 | ||
| Heteroplasmies | ||||||
| Maintained (+/- 5%) | 4 | 5 | 0 | 2 | ||
| Increased | 7 | 6 | 9 | 8 | ||
| Decreased | 6 | 9 | 12 | 12 | ||
| Total | 17 | 20 | 21 | 22 | ||
| TOTAL | 19 | 23 | 80 | 82 | ||
| Nature | ||||||
| Non coding | ||||||
| Control region | 1 | 1 | 20 | 19 | ||
| tRNAs, sRNAs | 9 | 10 | 16 | 17 | ||
| Total | 10 | 11 | 36 | 36 | ||
| Synonymous | ||||||
| Complex I | 2 | 2 | 10 | 11 | ||
| Complex III | 1 | 1 | 3 | 3 | ||
| Complex IV | 0 | 0 | 7 | 7 | ||
| Complex V | 0 | 0 | 2 | 2 | ||
| Total | 3 | 3 | 22 | 23 | ||
| Non-synonymous | ||||||
| Complex I | 2 | 5 | 13 | 14 | ||
| Complex III | 0 | 0 | 2 | 2 | ||
| Complex IV | 2 | 2 | 4 | 4 | ||
| Complex V | 2 | 2 | 3 | 3 | ||
| Total | 6 | 9 | 22 | 23 | ||
| TOTAL | 19 | 23 | 80 | 82 | ||
| Relevance | ||||||
| Reported | ||||||
| Disease associated | 2 | 3 | 0 | 0 | ||
| Cancer associated | 3 | 3 | 4 | 4 | ||
| Common variants | 12 | 13 | 72 | 73 | ||
| Not reported | 7 | 10 | 8 | 9 | ||
| TOTAL | 19 | 23 | 80 | 82 | ||