Table 1.
List of participant donors of cells for iPSC-organoid generation and reproducibility of AD-like pathology (by histological analysis).
| Participant | DS | Age at sample collection | Sex | Dementia status | APOE | Donated primary material | Number of iPSC clones generated | Number of clones used for organoid generation | Number of organoids with AD-like-pathology/total number of histologically analysed organoids |
|---|---|---|---|---|---|---|---|---|---|
|
| |||||||||
| QM-DS1 | Yes | 40 | F | Diagnosed at 40, symptoms at 37 | 3,3 | Hair strands | 3 | 2 | 9/9 (two iPSC clones analysed) |
| QM-DS2 | Yes | 67 | M | Diagnosed at 63 | 3,3 | Hair strands | 5 | 1 | 12/12 |
| QM-DS3 | Yes | 38 | M | Diagnosed at 37 | 3,4 | Hair strands | 1 | 1 | 7/7 |
| QM-DS4 | Yes | 64 | M | Diagnosed at 62 (brother and sister have AD) | 3,3 | Hair strands | 3 | 2 | 6/6 (two iPSC clones analysed) |
| QM-DS5 | Yes | 60 | M | Diagnosed at 62 | 3,3 | Hair strands | 3 | 2 | 6/6 (two iPSC clones analysed) |
| QM-DS6 | Yes | 31 | F | No dementia at 37 | 3,4 | Hair strands | 8 | 2 | 0/6 (two iPSC clones analysed) |
| QM-DupAPP | No | 64 | M | FEOAD, no DS | 3,3 | Blood sample | 2 | 2 | 5/5 (two iPSC clones analysed) |
| D21C3 (isogenic) D21C9 (isogenic) D21C7 (isogenic) |
D21 normal karyotype from DS mosaic | 16 | F | Unknown | 3,3 | Skin biopsy | 3 | 3 | 0/10 (three iPSC clones analysed) |
| T21C6 (isogenic) T21C13 (isogenic) T21C5 (isogenic) |
T21 karyotype from DS mosaic | 3 | 3 | 0/23 (three iPSC clones analysed) | |||||
| T21C5Δ7 (isogenic CRISPR BACE2) | T21 karyotype from DS mosaic (disomy BACE2 by CRISPR) | 1 | 1 | 18/18 | |||||
| T21C5Δ7 (isogenic CRISPR BACE2) + DMSO | 1 | 1 | 3/3 | ||||||
| T21C5Δ7 (isogenic CRISPR BACE2)+ β and γ sec inhibitors | 0/4 | ||||||||