Table 1 Clinical Information of patient fibroblast hiPSC lines
Sample name | Mutation | Gene | Clinical information | Age at diagnosis | Sex |
|---|---|---|---|---|---|
BJ-hiPSC | – | – | Healthy control | Neonate | M |
SBG1-hiPSC | 8993 T > G | MTATP6 | Morbus leigh | 3 years | F |
SBG2-hiPSC | 8993 T > G | MTATP6 | Developmental delay, abnormal gait | 4 years | M |
SBG3-hiPSC | 9185 T > C | MTATP6 | Myopathy | 23 years | F |
SBG5-hiPSC | 12706 T > C | MTND5 | Severe neonatal lactic acidosis | 8 months | F |