Table 1 Description of the human iPSC lines used in the study: demographic information about iPSC and fibroblast lines from C9ORF72-ALS/FTD patients and healthy control (CTRL) employed to generate iMNs and dNs
Subject | Mutation | Age | Sex | Race/nationality | ALSFRS-R score at screen | Onset till biopsy | Notes |
|---|---|---|---|---|---|---|---|
Control 1 | Healthy | 30 | M | Asian | N/A | N/A | Â |
Control 2 | Healthy | Â | M | Â | Â | Â | Commercially available System Bioscience Cat. SC950A-1 |
Control 3 | Healthy |  | F | Caucasian |  |  | Pilotto et al. Acta Neurophatologica 144, 939–966 (2022) |
C9ORF72 1 | C9ORF72 positive |  | M | Caucasian |  |  | Donnelly, C.J. et al. Neuron 80,415–428 (2013) |
C9ORF72 2 | C9ORF72 positive |  | M | Caucasian |  |  | Donnelly, C.J. et al. Neuron 80,415–428 (2013) |
C9ORF72 3 and its isogenic line | C9ORF72 positive | 38 | F | Dutch |  | 1 year | Mehta, A.R. et al. Acta Neurophatologica 141, 257–279 (2021) |
C9ORF72 4 | C9ORF72 positive | 52 | M | Caucasian |  |  | Pilotto et al. Acta Neurophatologica 144, 939–966 (2022) |
C9ORF725 | C9ORF72 positive | 51 | M | Caucasian |  |  < 1 year | Pilotto et al. Acta Neurophatologica 144, 939–966 (2022) |
C9ORF726 | C9ORF72 positive | 67 | F | Caucasian |  |  | Pilotto et al. Acta Neurophatologica 144, 939–966 (2022) |