Table 1 Description of cell lines used in the study
Patient # | Genotype | Disease type | Age (years) | Sex |
|---|---|---|---|---|
1 | Normal | Normal | 57 | F |
2 | Normal | Normal | UN* | UN* |
3 | L444P/L444P | 3 | 1 | F |
4 | L444P/L444P | 3 | 1 | F |
5 | L444P/L444P | 3 | 2 | F |
6 | L444P/L444P | 3 | 3 | F |
7 | L444P/RecNci | 2 | 1 | M |
8 | N370S/N370S | 1 | 43 | F |
9 | R131C/R131C | 2 | 1Â month | F |
10 | L444P/R120W | 2 | 1 | F |
11 | L444P/P415R | 2 | 11Â months | F |
12 | N370S/N370S | 1(severe) | 11 | M |
13 | N370S/V394L | 1 | 30 | M |
14 | K157Q/D140H_E326K | 1 | 26 | M |
15 | K157Q/D140H_E326K | 1(severe) | 13 | M |