Sample ID | Group | TISSUE ORIGIN | Whole mtDNA SEQUENCING PREVIOUSLY PERFORMED | COMPARATIVE SEQUENCING METHOD | mtDNA Haplogroup | MFP Predicted Haplogroup | Unique or Pathogenic Known Feature | Heteroplasmic variant levels | MitoChip Detection of a priori known feature(s) | MFP MitoChip v2.0 Call Rate (%) |
---|---|---|---|---|---|---|---|---|---|---|
1 | Clinical | Blood | No | Common point mutation panel (Baylor) | H | H | None | Â | Yes | 99.5 |
2 | Clinical | Blood | No | Common point mutation panel (Baylor) | I2 | I | Heteroplasmic 3243A > G | 84% | Yes | 99.7 |
3 | Clinical | Blood | No | DHPLC (Transgenomics) | B2b | R* | None | Â | Yes | 99.6 |
4 | Clinical | Blood | No | DHPLC (Transgenomics) | R* | R* | None | Â | Yes | 99.5 |
5 | Clinical | Muscle | No | DHPLC (Transgenomics) | N1b2 | N1* | None | Â | Yes | 99.7 |
6 | Clinical | Muscle | Yes | Sanger (Baylor) | J1c | J | Homoplasmic 10845C > T Heteroplasmic 5049C > T | Not reported | Yes | 99.8 |
7 | Clinical | Muscle& | Yes | Sanger (Baylor) | J1c | J | Homoplasmic 12264C > T | 100% | Yes | 99.6 |
8 | Clinical | Blood& | No | qPCR of heteroplasmic variant (Baylor) | J1c | J | Heteroplasmic 12264C > T | 30% | Yes | 99.6 |
9 | Clinical | Blood | Yes | Sanger (Baylor) | N1a | N1* | Homoplasmic T insertion between 5537 and 5538 | Â | Yes | 99.8 |
10 | Clinical | Blood | Yes | Sanger (Baylor) | N1b2 | N1* | None | Â | Yes | 99.7 |
11 | Clinical | Blood | Yes | Sanger (Baylor) | W1c | W | Homoplasmic 11204T > C | Â | Yes | 99.6 |
12 | Clinical | Blood | Yes | Sanger (Baylor) | L1b1a | L0/L1 | Homoplasmic 11778G > A | Â | Yes | 99.5 |
13 | Clinical | Fibroblast Cell Line | Yes | Sanger (Baylor) | H | H | None | Â | Yes | 99.6 |
14 | Research | Cell line | Yes | Sanger (MPK) | K | L3 | 5 Kb deletion | Â | Yes | N/A |
15 | Research | Hela Cell Line | Yes | Illumina GAII (JAB) | L3b1a1 | L3 | None | Â | No | 99.7 |
16 | Research | Blood | Yes | Sanger (TGS) | V7 | V | None | Â | Yes | 99.7 |
17 | Research | Blood | Yes | Sanger (TGS) | H11 | H | Heteroplasmy 9966G > A | 20% | No | 98.5 |
18 | Research | Blood | Yes | Sanger (TGS) | U4a | U* | Heteroplasmy 1706A > G | 25% | No | 98.9 |
19 | Research | Blood | Yes | Sanger (TGS) | D5a | L3 | None | Â | Yes | 99.7 |
20 | Research | Blood | Yes | Sanger (TGS) | D5a | L3 | None | Â | Yes | 99.6 |
21 | Research | Blood | Yes | Sanger (TGS) | J1c2 | J | Heteroplasmy 12879C > T | 45% | Yes | 99.7 |
22 | Research | Blood | Yes | Sanger (TGS) | T1a | T | None | Â | Yes | 99.6 |
23 | Research | Blood | Yes | Sanger (TGS) | U4b3 | U* | None | Â | Yes | 99.8 |
24 | Research | Blood | Yes | Sanger (TGS) | D5c | L3 | None | Â | Yes | 99.6 |