Table 1.
A list of iPSCs lines generated from patients with MERRF syndrome used in this study
| iPSC lines | Original cells | mtDNA genotype | FH | m.8344A > G mutation load (%) | |||||
|---|---|---|---|---|---|---|---|---|---|
| SF | iPSCs | iNSCs | |||||||
| RFLP | NGS | RFLP | NGS | RFLP | NGS | ||||
| M1Low iPSCs | M1 SF | m.8344A > G | Yes | 97.0 ± 2.6 | 95.4 | N.D. | N.D. | N.D. | N.D. |
| M1High iPSCs | M1 SF | m.8344A > G | Yes | 97.0 ± 2.6 | 95.4 | 47.8 ± 0.9 | 41.7 | 38.7 ± 2.5 | 35.9 |
| M2High iPSCs | M2 SF | m.8344A > G | Yes | 47.0 ± 0.6 | N.A. | 57.0 ± 0.4 | 51.6 | 59.9 ± 2.4 | 55.4 |
| M3Low iPSCs | M3 SF | m.8344A > G | Yes | 98.3 ± 1.2 | 85.5 | 5.4 ± 1.0 | 6.2 | 3.5 ± 0.6 | 7.3 |
| M3Med1 iPSCs | M3 SF | m.8344A > G | Yes | 98.3 ± 1.2 | 85.5 | 27.9 ± 0.9 | 25.4 | 27.6 ± 1.9 | 22.1 |
| M3Med2 iPSCs | M3 SF | m.8344A > G | Yes | 98.3 ± 1.2 | 85.5 | 26.5 ± 2.1 | N.A. | 26.0 ± 3.0 | N.A. |
| N iPSCs | N PBMC | Wild type | No | N.A. | N.A. | N.D. | N.D. | N.D. | N.D. |
FH family history, N normal, N.A. not available, N.D. not detectable, SF skin fibroblast