Cell Lines SACS/ARSACS/SPAX6 ESi063-A Cell type hiPSC Causal gene(s) SACS Mutation c.9938delC(p.G3313Qfs*11)/c.11374C>T(p.R3792*) RRID CVCL_VP83 Originating lab Research Center Principe Felipe View details →
Cell Lines SACS/ARSACS/SPAX6 ESi064-A Cell type hiPSC Causal gene(s) SACS Mutation c.11374C > T (p.R3792X) RRID CVCL_UG20 Originating lab Research Center Principe Felipe View details →
Mouse Models SPG7 eSpg7 KO Model type Knockout Mouse strain C57BL/6N Causal gene(s) SPG7 Mutation Spg7 and Afg3l1 full body knockout Originating lab University of Cologne View details →
Cell Lines SCA28 F664S (p1) Cell type Fibroblast Causal gene(s) AFG3L2 Mutation p.F664S (p1) Originating lab IRCCS Ospedale San Raffaele View details →
Cell Lines SCA28 F664S (p2) Cell type Fibroblast Causal gene(s) AFG3L2 Mutation p.F664S (p2) Originating lab IRCCS Ospedale San Raffaele View details →
Cell Lines AOA1 fAP1 Cell type Fibroblast Causal gene(s) APTX Mutation pW279X/pW279X; sibling of fAP2 View details →
Cell Lines AOA1 fAP2 Cell type Fibroblast Causal gene(s) APTX Mutation pW279X/pW279X; sibling of fAP1 View details →
Cell Lines SACS/ARSACS/SPAX6 FARSF56-7 Cell type hiPSC Causal gene(s) SACS Mutation c.8844delT (homozygous) Originating lab Obtained from: CRCHU de Quebec's induced pluripotency stem cells production platform View details →
Cell Lines SACS/ARSACS/SPAX6 FARSM50-5 Cell type hiPSC Causal gene(s) SACS Mutation c.8844delT (homozygous) Originating lab Obtained from: CRCHU de Quebec's induced pluripotency stem cells production platform View details →
Cell Lines SCA27B FC35 Cell type hiPSC Causal gene(s) FGF14 Mutation 300/300 GAA Originating lab Montreal Neurological Hospital and Institute View details →
Cell Lines SCA27B FC49 Cell type hiPSC Causal gene(s) FGF14 Mutation 16/383 GAA Originating lab Montreal Neurological Hospital and Institute View details →
Cell Lines AOA1 FD105 Cell type Fibroblast Causal gene(s) APTX Mutation pW279X/pW279X; sibling of FD106 View details →
Cell Lines AOA1 FD106 Cell type Fibroblast Causal gene(s) APTX Mutation pW279X/pW279X; sibling of FD105 View details →
Cell Lines AOA1 FG4003 Cell type Fibroblast Causal gene(s) APTX Mutation 689insT/840delT RRID CVCL_ZT69 Originating lab The Queensland Institute for Medical Research View details →
Mouse Models FXTAS Fmr1 (CGG)98 knock-in mice Model type Knock-in Causal gene(s) FMR1 Mutation CGG knock-in mouse with 98 CGG Originating lab Erasmus University Rotterdam View details →
Cell Lines FXTAS FMR1 conditional KO clone F17 Cell type hESC Causal gene(s) FMR1 Mutation hESC conditional FMR1 knockout Originating lab Stanford University School of Medicine View details →
Cell Lines FXTAS FMR1 conditional KO clone F33 Cell type hESC Causal gene(s) FMR1 Mutation hESC conditional FMR1 knockout Originating lab Stanford University School of Medicine View details →
Cell Lines FXTAS FMR1 KO hESC Cell type hESC Causal gene(s) FMR1 Mutation CRISPR/Cas9 generated FMR1 KO; from WCMC-37 Originating lab National University of Singapore View details →
