Table 2.
Human induced pluripotent stem cells from mutation carriers and non-carriers enrolled in DIAN
| Gene | Family mutation | Mutation status | Donorsa | Ethnicity | Clinical statusb | APOE | Reprogramming method | Donor number |
|---|---|---|---|---|---|---|---|---|
| APP | V717L | Positive | 1 | EA | A | 33 | Episomal | F15553 |
| V717I | Positive | 1 | EA | A | 33 | Episomal | F16574 | |
| Negative | 1 | EA | A | 33 | Episomal | F12462 | ||
| PSEN1 | A79V | Positive | 1 | EA | A | 34 | Sendai | F12424 |
| Negative | 1 | EA | A | 33 | Sendai | F12436 | ||
| H163R | Positive | 1 | EA | A | 34 | Sendai | F11430 | |
| Negative | 1 | EA | A | 33 | Sendai | F12442 | ||
| G217R | Positive | 1 | EA | A | 24 | Sendai | F12434 | |
| Negative | 1 | EA | A | 34 | Sendai | F12445 | ||
| PSEN2 | N141I | Positive | 1 | EA | A | 33 | Sendai | F12448 |
| Negative | 1 | EA | A | 34 | Sendai | F12468 |
APOE Apolipoprotein E, EA European American
aIndependent induced pluripotent stem cell lines. For each line, at least two clones are available
bAt biopsy