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464 resources

Name / ID Type Disease RRID Causal gene(s) Mutation Originating lab
 Atn1Q112/+ mouse Mouse Models DRPLA — ATN1 112Q University of Washington
? Cell Lines SCA1 — ATXN1 29/60 CAG University of Ferrara (UNIFE)
04/009 Cell Lines SPG7 — SPG7 c.1529C>T (het) and p.Ala510V (exon 11) and c.1745G>A and p.Gly582Asp (exonl1) University of Sydney
08/081 Cell Lines SPG7 — SPG7 c.1529C>T (het) and p.A510V (exon 11) and c.1449+1G>A (het) (intron 10) University of Sydney
08/082 Cell Lines SPG7 — SPG7 c.1529C>T (het) and p.A510V (exon 11) and c.1449+1G>A (het) (intron 10) University of Sydney
1 Cell Lines SCA7 — ATXN7 50 CAG University of Califorania
10 Cell Lines SCA3 — ATXN3 71 CAG University Medical Center Groningen (UMCG)
11 Cell Lines SCA3 — ATXN3 64 CAG University Medical Center Groningen (UMCG)
11-033 Cell Lines SCA1 — ATXN1 32/43 CAG University of Minnesota
11-036 Cell Lines SCA1 — ATXN1 30/41 CAG University of Minnesota
11-037 Cell Lines SCA1 — ATXN1 33/46 CAG University of Minnesota
11/082 Cell Lines SPG7 — SPG7 c.1529C>T (het) and p.A510V (exon 11) and c.1727C>G (het) and p.S576W (exon 13) University of Sydney
121i-n6, -n10, -n12 Cell Lines SCA12 — PPP2R2B 12/65 CAG; parental line of 122i (isogenic line) Johns Hopkins University
122i Cell Lines SCA12 — PPP2R2B 12/10 CAG; CRISPR/Cas9n modified line from 121i-n6, -n10, -n12 (isogenic pair) Johns Hopkins University
13 Cell Lines SCA3 — ATXN3 70 CAG University Medical Center Groningen (UMCG)
14/065 Cell Lines SPG7 — SPG7 c.1454_1462del (het) and p.Arg485_Glu487del (exon 11) and c.1529C>T (het) and p.A510V (exon 11) University of Sydney
15 Cell Lines SCA3 — ATXN3 71 CAG University Medical Center Groningen (UMCG)
16 Cell Lines SCA3 — ATXN3 71 CAG University Medical Center Groningen (UMCG)
17 Cell Lines SCA3 — ATXN3 75 CAG University Medical Center Groningen (UMCG)
19 Cell Lines SCA3 — ATXN3 61 CAG University Medical Center Groningen (UMCG)
2 Cell Lines SCA7 (unaffected family) — ATXN7 10/10 CAG; father from 65 CAG SCA7) University of Califorania
20 Cell Lines SCA3 — ATXN3 64 CAG University Medical Center Groningen (UMCG)
21 Cell Lines SCA3 — ATXN3 74 CAG University Medical Center Groningen (UMCG)
22 Cell Lines SCA3 — ATXN3 67 CAG University Medical Center Groningen (UMCG)
23 Cell Lines SCA3 — ATXN3 65 CAG University Medical Center Groningen (UMCG)
24 Cell Lines SCA3 — ATXN3 75 CAG University Medical Center Groningen (UMCG)
25 Cell Lines SCA3 — ATXN3 80 CAG University Medical Center Groningen (UMCG)
27 Cell Lines SCA3 — ATXN3 71 CAG University Medical Center Groningen (UMCG)
3 Cell Lines SCA7 — ATXN7 65/10 CAG University of Califorania
380i Cell Lines SCA12 — PPP2R2B 9/10 CAG; CRISPR/Cas9n modified line from 380i-n9, -n11 (isogenic pair) Johns Hopkins University
380i-n9, -n11 Cell Lines SCA12 — PPP2R2B 9/69 CAG; parental line of 380i (isogenic line) Johns Hopkins University
4 Cell Lines SCA7 (unaffected family) — ATXN7 10/10 CAG; mother from 70 CAG SCA7) University of Califorania
41Q Cell Lines SCA7 — ATXN7 10/41 CAG University of Capetown
47Q Cell Lines SCA7 — ATXN7 10/47 CAG University of Capetown
5 Cell Lines SCA7 — ATXN7 30 CAG University of Califorania
5’UTR FMR1 (CGG)99 Mouse Models FXTAS — FMR1 Full human FMR1 5'UTR with 99 expanded CGG expressing both CGG RNA and FMRpolyG protein Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC)
515i Cell Lines SCA12 — PPP2R2B 8/10 CAG; CRISPR/Cas9n modified line from 515i-n2, -n3, -n5 (isogenic pair) Johns Hopkins University
515i-n2, -n3, -n5 Cell Lines SCA12 — PPP2R2B 8/56 CAG; parental line of 515i (isogenic line) Johns Hopkins University
6 Cell Lines SCA7 — ATXN7 70/10 CAG University of Califorania
7 Cell Lines SCA3 — ATXN3 69 CAG University Medical Center Groningen (UMCG)
7078 Cell Lines SACS/ARSACS/SPAX6 — SACS c.2094-2A > G/Q4054* (compound heterozygous) Obtained from: Radboud University Nijmegen Medical Center
7168 Cell Lines SACS/ARSACS/SPAX6 — SACS K1715*/R4331Q (compound heterozygous) Obtained from: Radboud University Nijmegen Medical Center
7373 Cell Lines SACS/ARSACS/SPAX6 — SACS p.2801delQ (homozygous) Obtained from: Radboud University Nijmegen Medical Center
8 Cell Lines SCA3 — ATXN3 72 CAG University Medical Center Groningen (UMCG)
9 Cell Lines SCA3 — ATXN3 64 CAG University Medical Center Groningen (UMCG)
A1015 Cell Lines AOA1 — APTX pW279X/pQ181X Istituto Neurologico Carlo Besta
A53T α-syn transgenic mouse Mouse Models MSA/OPCA — Sporadic WT (M7, M12, M20) and mutant (M83, M91) A53T human α-syn, both hetero- and homozygous University of Pennsylvania School of Medicine
AAR-242-003 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.I513V (missense homozygous variant) University of Bordeaux
AAR-334-009 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.R961*(nonsense+missense heterozygous variant) University of Bordeaux
AAR-437-014 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.R272H (missense homozygous variant) University of Bordeaux
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