Table 2.
Quantitation of mtDNA copy number in cybrids
| Cell line | Patient | bp/genome | Molecules/cell | Picograms/cell |
|---|---|---|---|---|
| Wild-type | ||||
| KAF4EB12.22 (n = 20) | 1 | 16,569 | 13,050 ± 1,036 | 0.24 ± 0.02 |
| KAF4EB12.26 (n = 20) | 1 | 16,569 | 13,118 ± 1,170 | 0.24 ± 0.02 |
| KAF4EB12.39 (n = 20) | 1 | 16,569 | 13,000 ± 984 | 0.24 ± 0.02 |
| Average (KAF4EB12) | 13,056 ± 1,063 | 0.24 ± 0.02 | ||
| 206/F4 3.13.44 (n = 10) | 2 | 16,569 | 12,900 ± 1,000 | 0.23 ± 0.02 |
| Duplication | ||||
| KAF4EB12.28 (n = 20) | 1 | 25,323 | 8,702 ± 803 | 0.25 ± 0.02 |
| KAF4EB12.32 (n = 20) | 1 | 25,323 | 8,470 ± 791 | 0.24 ± 0.02 |
| KAF4EB12.42 (n = 20) | 1 | 25,323 | 8,478 ± 742 | 0.24 ± 0.02 |
| Average (KAF4EB12) | 8,550 ± 779 | 0.24 ± 0.02 | ||
| Deletion | ||||
| KAF4EB12.17 (D)a (n = 20) | 1 | 17,508 | 11,810 ± 1,083 | 0.23 ± 0.02 |
| KAF4EB12.49 (D) (n = 20) | 1 | 17,508 | 11,939 ± 1,187 | 0.23 ± 0.02 |
| Average (KAF4EB12) | 11,875 ± 1,135 | 0.23 ± 0.02 | ||
| 206/F4 3.13.41 (M) (n = 10) | 2 | 9,049 | 22,854 ± 1,874 | 0.22 ± 0.02 |
| 206/F4 3.13.46 (M) (n = 10) | 2 | 9,049 | 23,710 ± 1,866 | 0.23 ± 0.02 |
| Average (206/F4 3) | 23,282 ± 1,870 | 0.23 ± 0.02 |
a
D, dimeric mtDNA; M, monomeric mtDNA.