Mouse Models DRPLA Atn1Q112/+ mouse Model type Knock-in Mouse strain C57BL/6Ntac Causal gene(s) ATN1 Mutation 112Q Originating lab University of Washington View details →
Cell Lines SCA1 ? Cell type Fibroblast Causal gene(s) ATXN1 Mutation 29/60 CAG Originating lab University of Ferrara (UNIFE) View details →
Cell Lines SPG7 04/009 Cell type Fibroblast Causal gene(s) SPG7 Mutation c.1529C>T (het) and p.Ala510V (exon 11) and c.1745G>A and p.Gly582Asp (exonl1) Originating lab University of Sydney View details →
Cell Lines SPG7 08/081 Cell type Fibroblast Causal gene(s) SPG7 Mutation c.1529C>T (het) and p.A510V (exon 11) and c.1449+1G>A (het) (intron 10) Originating lab University of Sydney View details →
Cell Lines SPG7 08/082 Cell type Fibroblast Causal gene(s) SPG7 Mutation c.1529C>T (het) and p.A510V (exon 11) and c.1449+1G>A (het) (intron 10) Originating lab University of Sydney View details →
Cell Lines SCA7 1 Cell type hiPSC Causal gene(s) ATXN7 Mutation 50 CAG Originating lab University of Califorania View details →
Cell Lines SCA3 10 Cell type Fibroblast Causal gene(s) ATXN3 Mutation 71 CAG Originating lab University Medical Center Groningen (UMCG) View details →
Cell Lines SCA3 11 Cell type Fibroblast Causal gene(s) ATXN3 Mutation 64 CAG Originating lab University Medical Center Groningen (UMCG) View details →
Cell Lines SCA1 11-033 Cell type hiPSC Causal gene(s) ATXN1 Mutation 32/43 CAG Originating lab University of Minnesota View details →
Cell Lines SCA1 11-036 Cell type hiPSC Causal gene(s) ATXN1 Mutation 30/41 CAG Originating lab University of Minnesota View details →
Cell Lines SCA1 11-037 Cell type Fibroblast Causal gene(s) ATXN1 Mutation 33/46 CAG Originating lab University of Minnesota View details →
Cell Lines SPG7 11/082 Cell type Fibroblast Causal gene(s) SPG7 Mutation c.1529C>T (het) and p.A510V (exon 11) and c.1727C>G (het) and p.S576W (exon 13) Originating lab University of Sydney View details →
Cell Lines SCA12 121i-n6, -n10, -n12 Cell type hiPSC Causal gene(s) PPP2R2B Mutation 12/65 CAG; parental line of 122i (isogenic line) Originating lab Johns Hopkins University View details →
Cell Lines SCA12 122i Cell type hiPSC Causal gene(s) PPP2R2B Mutation 12/10 CAG; CRISPR/Cas9n modified line from 121i-n6, -n10, -n12 (isogenic pair) Originating lab Johns Hopkins University View details →
Cell Lines SCA3 13 Cell type Fibroblast Causal gene(s) ATXN3 Mutation 70 CAG Originating lab University Medical Center Groningen (UMCG) View details →
Cell Lines SPG7 14/065 Cell type Fibroblast Causal gene(s) SPG7 Mutation c.1454_1462del (het) and p.Arg485_Glu487del (exon 11) and c.1529C>T (het) and p.A510V (exon 11) Originating lab University of Sydney View details →
Cell Lines SCA3 15 Cell type Fibroblast Causal gene(s) ATXN3 Mutation 71 CAG Originating lab University Medical Center Groningen (UMCG) View details →
Cell Lines SCA3 16 Cell type Fibroblast Causal gene(s) ATXN3 Mutation 71 CAG Originating lab University Medical Center Groningen (UMCG) View details →
Cell Lines SCA3 17 Cell type Fibroblast Causal gene(s) ATXN3 Mutation 75 CAG Originating lab University Medical Center Groningen (UMCG) View details →
Cell Lines SCA3 19 Cell type Fibroblast Causal gene(s) ATXN3 Mutation 61 CAG Originating lab University Medical Center Groningen (UMCG) View details →
