Table 1 Summary table of the AD phenotypes evaluated using the iPSC-derived models of donors with familial AD mutations
Mutations | AD-related phenotypes | |||
|---|---|---|---|---|
iPSC-derived cortical neurons | References | iPSC-derived astrocytes | References | |
APP V717L | ↑ Aβ42, ↑ Aβ42/Aβ40 | [17] | – | – |
↓ Autophagy, ↓ Mitophagy | [40] | – | – | |
APP V717I | ↑ Aβ42, ↑ Aβ38, ↑ Aβ42/Aβ40 , ↑ total Tau, pTau Ser262 | [41] | – | – |
↑ Aβ38/Aβ40, ↑ Aβ42/Aβ40 | [42] | |||
APP V717G | ↑ Aβ42, ↑ Aβ42/Aβ40 | [43] | – | – |
APP V717F | – | – | → Impaired Aβ intake, → Lipid endocytosis | [48] |
APP Swe | ↑ total Aβ, → Aβ42/Aβ40 | [43] | Impaired Aβ intake, ↓ APP, ↓ Lipid endocytosis | [48] |
APP SWE/V717I | ↑ Aβ42, ↑ Aβ40 | [44] | – | – |
APP SWE, A692G | ↑ Aβ42, ↑ total Aβ, → Aβ42/Aβ40 | [43] | – | – |
APP Dp | ↑ Aβ40, ↑ pTau Ser231, RAB5+ early endosome enlargement | [8] | – | – |
APP E693Δ | ↑ Intracellular Aβ oligomers, ↑ ER stress and oxidative stress | [17] | – | – |
PSEN1 A246E, N141I | → Aβ40, ↑ Aβ42/Aβ40 | [7] | – | – |
PSEN1 A246E | ↑ Aβ42/Aβ40 | [45] | – | – |
↓ Autophagy, ↑ Lysosomal biogenesis | [46] | |||
PSEN1 Y115H, int4del, M139V, M146I, R278I | ↑ Aβ38/Aβ40, ↑ Aβ42/Aβ40 | [42] | – | – |
PSEN1 M146V, L116P, M233L, A246E | ↑ Aβ42, ↓ total Aβ, ↑ Aβ42/Aβ40 | [43] | – | – |
PSEN1 V89L, L150P | ↑ Aβ42, ↑ Aβ40, ↑ Aβ42/Aβ40 ↑pTau Ser262, Ser396, S202/T205, Thr181, Ser400/Thr403/Ser404 | [47] | – | – |