Cell Lines SCA14 PRKCG02 Cell type Fibroblast Causal gene(s) RKCG Mutation H36R (exon 1) Originating lab University of Oxford View details →
Cell Lines SCA14 PRKCG02-03 and PRKCG02-12 Cell type hiPSC Causal gene(s) RKCG Mutation H36R (exon 1) Originating lab University of Oxford View details →
Cell Lines SACS/ARSACS/SPAX6 Pt1 Cell type Fibroblast Causal gene(s) SACS Mutation c.5719C > T/c.12630_12634delTGAAA Originating lab IRCCS Stella Maris / Federico II University View details →
Cell Lines SACS/ARSACS/SPAX6 Pt2 Cell type Fibroblast Causal gene(s) SACS Mutation c.701_702delAA/c.701_702delAA Originating lab IRCCS Stella Maris / Federico II University View details →
Cell Lines SACS/ARSACS/SPAX6 Pt3 Cell type Fibroblast Causal gene(s) SACS Mutation c.8289_8291delTTC/c.10462_1043delCT Originating lab IRCCS Stella Maris / Federico II University View details →
Cell Lines SACS/ARSACS/SPAX6 Pt4 Cell type Fibroblast Causal gene(s) SACS Mutation c.6166_6167delTT/c.6166_6167delTT Originating lab IRCCS Stella Maris / Federico II University View details →
Cell Lines SACS/ARSACS/SPAX6 Pt5 Cell type Fibroblast Causal gene(s) SACS Mutation c.9268_9271delGTTA/c.11319_11321delAAG Originating lab IRCCS Stella Maris / Federico II University View details →
Mouse Models SCA21 R116C mutant TMEM-FL Model type Induced (AAV9 infection) Mouse strain C57BL/6J Causal gene(s) TMEM240 Mutation AAV9 with R116C mutant TMEM-FL in cerebellar neurons Originating lab Kumamoto University View details →
Cell Lines SCA1 RCPCMi003-A Cell type hiPSC Causal gene(s) ATXN1 RRID CVCL_UK96 Originating lab Federal Medical Biological Agency (RCPCM) View details →
Cell Lines SCA17/HDL4 RCPCMi008-A Cell type hiPSC Causal gene(s) TBP Mutation 47 CAG RRID CVCL_A8NA Originating lab Federal State Budgetary Institution Federal Research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency View details →
Cell Lines CANVAS RCPCMi017-A Cell type hiPSC Causal gene(s) RFC1 Originating lab Federal State Budgetary Institution Federal research and Clinical Center of Physical-Chemical Medicine of Federal Medical Biological Agency (RCPCM) View details →
Mouse Models CANVAS RFC+/- mice Model type Heterozygous KO Mouse strain SWV/Fnn Causal gene(s) RFC1 Mutation RFC1 heterozygous knockout mice Originating lab Texas A&M University View details →
Cell Lines SCA1 SCA1 1 Cell type Fibroblast Causal gene(s) ATXN1 Mutation 32/50 CAG Originating lab Leiden University Medical Center View details →
Cell Lines SCA1 SCA1 2 Cell type Fibroblast Causal gene(s) ATXN1 Mutation 29/46 CAG Originating lab Leiden University Medical Center View details →
Cell Lines SCA1 SCA1 3 Cell type Fibroblast Causal gene(s) ATXN1 Mutation 30/51 CAG Originating lab Leiden University Medical Center View details →
Cell Lines SCA1 SCA1 4 Cell type Fibroblast Causal gene(s) ATXN1 Mutation 30/47 CAG Originating lab Leiden University Medical Center View details →
Cell Lines SCA1 SCA1 A-3, 21, 26 Cell type hiPSC Causal gene(s) ATXN1 Mutation 26/46-47 CAG Originating lab Tokyo Medical and Dental University View details →
Cell Lines SCA1 SCA1 B-8, 17, 37 Cell type hiPSC Causal gene(s) ATXN1 Mutation 29/44-47 CAG Originating lab Tokyo Medical and Dental University View details →
Cell Lines SCA10 SCA10 (~1000 repeats) Cell type Fibroblast Causal gene(s) ATXN10 Mutation ~1000 ATTCT repeats Originating lab University of Texas View details →
Cell Lines SCA10 SCA10 (~2000 repeats) Cell type Fibroblast Causal gene(s) ATXN10 Mutation ~2000 ATTCT repeats Originating lab University of Texas View details →