Table 1.
Cell lines clinical information and Perk genotype of human subjects and experimental iPSC lines
| Clinical diagnosis | Gender | Age of onset | Age of biopsy | Rs7571971 (C/T) (intronic) | Rs867529 (C/G) TCC->TGC Ser136Cys | Rs13045 (G/A) CGA->CAA Arg166Gln | Rs55791823 (A/T) GAT->GTT Asp566Val | Rs1805165 (T/G) TCT->GCT Ser704Ala | iPSC lines |
|---|---|---|---|---|---|---|---|---|---|
| control | male | n/a | 86 | C/C | C/C | G/G | A/A | T/T | NDC1.1 NDC1.2 |
| control | male | n/a | 85 | C/C | C/C | G/G | A/A | T/T | NDC2.1 |
| control | male | n/a | 84 | C/C | C/C | G/G | A/A | T/T | NDC4 |
| PSP | male | 62 | 67 | T/T | G/G | A/A | A/T | G/G | PSP1.1 PSP1.2 |
| PSP | male | 74 | 78 | T/T | G/G | A/A | A/A | G/G | PSP2.1 PSP2.2 |