Table 1.
Characteristics of control and patient fibroblasts
| Cell linea | Mutation | CI act.b | Mean TMRM pixel intensityc | ER Ca2+ contentd | Rate of CM-DCF formatione | |
|---|---|---|---|---|---|---|
| Gene | Protein | |||||
| C-5120 | None | None | 113 | 100 ± 0.2 (N = 1033) | 100 ± 1 (N = 81) | 100 ± 2 (N = 412) |
| C-4996 | None | None | N.d. | 100 ± 0.7 (N = 134) | N.d. | N.d. |
| C-5118 | None | None | 103 | 99 ± 0.7 (N = 115) | 102 ± 8 (N = 20) | 125 ± 13 (N = 61) |
| C-5119 | None | None | 105 | 99 ± 1.1 (N = 65) | 102 ± 6 (N = 15) | 100 ± 11 (N = 48) |
| S1-6173 | NDUFS1 | R557X/D618N | 31 | 92 ± 0.8 (N = 120) | 82 ± 4 (N = 29) | 171 ± 13 (N = 87) |
| S2-5067 | NDUFS2 | P229Q | 36 | 94 ± 1.2 (N = 105) | 94 ± 4 (N = 70) | 351 ± 41 (N = 28) |
| S2-5170 | NDUFS2 | R228Q | 39 | 99 ± 0.6 (N = 126) | 95 ± 2 (N = 23) | 169 ± 7 (N = 124) |
| S4-4608 | NDUFS4 | K158fs | 75 | 87 ± 0.8 (N = 112) | 96 ± 4 (N = 44) | 289 ± 46 (N = 29) |
| S4-5260 | NDUFS4 | R106X | 36 | 92 ± 0.9 (N = 110) | 77 ± 4 (N = 40) | 187 ± 12 (N = 160) |
| S4-5737 | NDUFS4 | VPEEH167/VEKSIstop | 53 | 95 ± 0.6 (N = 160) | 87 ± 6 (N = 22) | 202 ± 12 (N = 98) |
| S7-5175 | NDUFS7 | V122M | 68 | 91 ± 0.4 (N = 384) | 73 ± 2 (N = 16) | 212 ± 15 (N = 76) |
| S8-6603 | NDUFS8 | R94C | 18 | 89 ± 0.8 (N = 121) | 85 ± 6 (N = 17) | 275 ± 20 (N = 117) |
| V1-5866 | NDUFV1 | R59X/T423M | 64 | 94 ± 0.8 (N = 68) | 87 ± 3 (N = 43) | 135 ± 12 (N = 49) |
| V1-5171 | NDUFV1 | R59X/T423M | 73 | 92 ± 1 (N = 104) | 96 ± 3 (N = 48) | 242 ± 19 (N = 78) |
Statistics: values significantly different from control C-5120 (p < 0.05) are depicted in italics
N indicates the number of cells analyzed, N.d. not determined, C indicates control cells
aNumerals indicate the designation of the cell lines within the Nijmegen Center for Mitochondrial Disorders (NCMD)
bDetermined relative to complex IV and expressed as percentage of lowest control [35]
cExpressed as % of the value for control C-5120
dERCa, expressed as % of the value for control C-5120 [23, 25]