Table 1. Homoplasmic cybrid cell lines analysed.
FLP, WS, RN, MM, LB, KB, JCP, DMP, AT and CW refer to patients' cell lines.
| Mutation | Mutation reference | Cybrids used | Cybrids reference | Source of mitochondria |
|---|---|---|---|---|
| MELAS A3243G | [22] | WS 241 (WT) | [6] | Fibroblasts |
| WS 176 (M) | ||||
| RN 236 (WT) | Myoblasts | |||
| RN 164 (M) | ||||
| MELAS T3271C | [23] | MM 71 (WT) | [7] | Fibroblasts |
| MM 37 (M) | ||||
| MM 63 (M) | ||||
| MERRF A8344G | [25] | LB 18 (WT) | [8] | Fibroblasts |
| LB 172 (WT) | ||||
| LB 12 (M) | ||||
| LB 64 (M) | ||||
| MERRF T8356C | [26] | KB 30 (WT) | ||
| KB 42 (M) | [8] | Fibroblasts | ||
| KB 57 (M) | ||||
| KB 106 (M) | ||||
| NARP T8993G | [9] | JCP 213 (WT) | [11] | Platelets |
| JCP 261 (M) | ||||
| JCP 239/Eb13-13 | ||||
| NARP T8993C | [10] | DMP 20/Eb10-21(WT) | Pers.Com. | Platelets |
| DMP 20/Eb10-3 (M) | ||||
| DMP 20/Eb 10-22 (M) | ||||
| AT 153 (WT) | Unpublished work† | Fibroblasts | ||
| AT 101 (M) | ||||
| Deletions | [24] | [21] | ||
| FLP‡ | FLP 6a39.2 (WT) | Fibroblasts | ||
| FLP 6a39.32 (M) | ||||
| CW§ | CW 440-116 (WT) | Fibroblasts | ||
| CW 420-106 (WT) | ||||
| CW 420-115 (M) |
* G. Manfredi, personal communication.
† M. Davidson and M. P. King.
‡ Δ 1.9 kb, nt 7846–9748.
§ Δ 5.8 kb, nt 10155–15945.