Cell Lines SCA7 SCA7 10Q Cell type hiPSC Causal gene(s) ATXN7 Mutation 10 CAG induced from ATXN7 KO Originating lab University of Califorania View details →
Cell Lines SCA7 SCA7 113Q Cell type hiPSC Causal gene(s) ATXN7 Mutation 113 CAG induced from ATXN7 KO Originating lab University of Califorania View details →
Cell Lines SCA7 SCA7 KO Cell type hiPSC Causal gene(s) ATXN7 Mutation ATXN7 Knock-out Originating lab University of Califorania View details →
Cell Lines SCA7 SCA7-1 Cell type hiPSC Causal gene(s) ATXN7 Originating lab Brigham and women's Hospital View details →
Cell Lines SCA7 SCA7-2 Cell type hiPSC Causal gene(s) ATXN7 Originating lab Brigham and women's Hospital View details →
Cell Lines SCA6 SCD16 Cell type hiPSC Causal gene(s) CACNA1A Mutation 22/12 CAG RRID CVCL_RJ10 Originating lab RIKEN Center for Developmental Biology View details →
Cell Lines SCA6 SCD162 Cell type Fibroblast Causal gene(s) CACNA1A Mutation 23/23 CAG Originating lab RIKEN Center for Developmental Biology View details →
Cell Lines SCA6 SCD162-6-2,13-2,17-2 Cell type hiPSC Causal gene(s) CACNA1A Mutation 23/23 CAG RRID CVCL_RJ04, CVCL_RJ05, CVCL_RJ06 Originating lab RIKEN Center for Developmental Biology View details →
Cell Lines SCA6 SCD166 Cell type Fibroblast Causal gene(s) CACNA1A Mutation 26/14 CAG Originating lab RIKEN Center for Developmental Biology View details →
Cell Lines SCA6 SCD166-2-3,2-14,2-16 Cell type hiPSC Causal gene(s) CACNA1A Mutation 26/14 CAG RRID CVCL_RJ07, CVCL_RJ08, CVCL_RJ09 Originating lab RIKEN Center for Developmental Biology View details →
Mouse Models AOA2/SCAN2/SCAR1 Setx-/- Model type Knockout Mouse strain C57BL6 and 129Sv Causal gene(s) SETX Mutation Homozygous Setx knock-out mice Originating lab University of Queensland View details →
Cell Lines SACS/ARSACS/SPAX6 SK.01AiPS Cell type hiPSC Causal gene(s) SACS Mutation c.9284dupC (homozygous) Originating lab Obtained from: McGill University View details →
Cell Lines SACS/ARSACS/SPAX6 SK10A Cell type Fibroblast Causal gene(s) SACS Mutation c.9248dupC/p.Ala3096Cysfs*2 Originating lab Obtained from: Queen Mary University of London View details →
Cell Lines SCA12 SN-2C Cell type hiPSC Causal gene(s) PPP2R2B Mutation 73/14 CAG; CRISPR/Cas9n modified line from CS25i-18n2 / SN-2 (isogenic pair) Originating lab Johns Hopkins University View details →
Mouse Models SPG7 Spg7-/- mice Model type Knockout Mouse strain C57BL/6-129Sv Causal gene(s) SPG7 Mutation Spg7 homozygous knockout Originating lab Telethon Institute of Genetics and Medicine View details →
Mouse Models SPG7 Spg7−/−Afg3l2Emv66/+ mice Model type Knockout Mouse strain C57BL6-129Sv x FVB Causal gene(s) SPG7 Mutation Spg7 homozygous knockout and heterozygous Afg3l2 mice Originating lab Istituto Neurologico C. Besta View details →
Cell Lines FXTAS SZ-FX10 Cell type hESC Causal gene(s) FMR1 Mutation >58 and <200 CGG (heterozygous; premutation carrier) RRID CVCL_Y331 Originating lab Shaare Zedek Medical Center (SZMC) View details →
Cell Lines FXTAS SZ-FX11 Cell type hESC Causal gene(s) FMR1 Mutation >58 CGG (premutation carrier) RRID CVCL_YL34 Originating lab Shaare Zedek Medical Center (SZMC) View details →
Cell Lines FXTAS SZ-FX13 Cell type hESC Causal gene(s) FMR1 Mutation >58 CGG (premutation carrier) RRID CVCL_YL36 Originating lab Shaare Zedek Medical Center (SZMC) View details →
Cell Lines FXTAS SZ-FX16 Cell type hESC Causal gene(s) FMR1 Mutation >58 CGG (premutation carrier) RRID CVCL_YL38 Originating lab Shaare Zedek Medical Center (SZMC) View details →