Cell Lines SCA8 KCGMHi003-A Cell type hiPSC Causal gene(s) ATXN8 or ATXN8OS Mutation >70 CTG repeats Originating lab Kaohsiun chang Gung Memorial Hospital View details →
Mouse Models EA1 Kcna-/- mice Model type Knockout Mouse strain Different background strains Causal gene(s) KCNA1 Mutation Homozygous Kcna1 knockout Originating lab University of Washington View details →
Mouse Models EA1 Kcna1V408A/+ Model type Heterozygous V408A mutation in the Kcna1 gene Mouse strain C57BL/6J Causal gene(s) KCNA1 Mutation Heterozygous V408A mutation in the Kcna1 gene Originating lab Oregon Health & Sciences University View details →
Mouse Models SCA19/22 Kcnd3 F227del mutant mice Model type Knock-in Mouse strain B6N x C57BL/6J Causal gene(s) KCND3 Mutation Knock-in of Kcnd3 F227del, both heterozygous and homozygous Originating lab National Yang Ming Chiao Tung University View details →
Mouse Models SCA19/22 Kcnd3 KO mice Model type Knockout Mouse strain C57BL/6J Causal gene(s) KCND3 Mutation Knockout of Kcnd3 Originating lab National Yang Ming Chiao Tung University View details →
Cell Lines MSA/OPCA KOLF2.1J COQ2 M128V REV/WT Cell type hiPSC Causal gene(s) COQ2 Mutation CRISPR/Cas9 engineered revertant of the heterozygously edited COQ2 p.Met78Val RRID CVCL_E7K6 Originating lab The Jackson Laboratory View details →
Cell Lines MSA/OPCA KOLF2.1J COQ2 M128V SNV/SNV Cell type hiPSC Causal gene(s) COQ2 Mutation CRISPR/Cas9 engineered homozygous edited COQ2 p.Met78Val RRID CVCL_E7K7 Originating lab The Jackson Laboratory View details →
Cell Lines MSA/OPCA KOLF2.1J COQ2 M128V SNV/WT Cell type hiPSC Causal gene(s) COQ2 Mutation CRISPR/Cas9 engineered heterozygous edited COQ2 p.Met78Val RRID CVCL_E7K8 Originating lab The Jackson Laboratory View details →
Cell Lines SCA13 KOLF2.1J KCNC3 R420H REV/WT Cell type hiPSC Causal gene(s) KCNC3 Mutation Control cell line: CRISPR/Cas9 revertant of KOLF2.1J KCNC3 R420H SNV/WT RRID CVCL_E7LC Originating lab The Jackson Laboratory View details →
Cell Lines SCA13 KOLF2.1J KCNC3 R420H SNV/SNV Cell type hiPSC Causal gene(s) KCNC3 Mutation CRISPR/Cas9 edited from parental line; KCNC3 c.1259G>A (homozygous; p.Arg420His) RRID CVCL_E7LD Originating lab The Jackson Laboratory View details →
Cell Lines SCA13 KOLF2.1J KCNC3 R420H SNV/WT Cell type hiPSC Causal gene(s) KCNC3 Mutation CRISPR/Cas9 edited from parental line; KCNC3 c.1259G>A (heterozygous; p.Arg420His) RRID CVCL_E7LE Originating lab The Jackson Laboratory View details →
Cell Lines SCA14 KOLF2.1J PRKCG F643L REV/WT Cell type hiPSC Causal gene(s) RKCG Mutation CRISPR/Cas9 engineered revertant of the heterozygously edited PRKCG p.Phe643Leu (c.1927T>C) RRID CVCL_E7LY Originating lab The Jackson Laboratory View details →
Cell Lines SCA14 KOLF2.1J PRKCG F643L SNV/SNV Cell type hiPSC Causal gene(s) RKCG Mutation CRISPR/Cas9 engineered homozygous edited PRKCG p.Phe643Leu (c.1927T>C) RRID CVCL_E7LZ Originating lab The Jackson Laboratory View details →
Cell Lines SCA14 KOLF2.1J PRKCG F643L SNV/WT Cell type hiPSC Causal gene(s) RKCG Mutation CRISPR/Cas9 engineered heterozygous edited PRKCG p.Phe643Leu (c.1927T>C) RRID CVCL_E7M0 Originating lab The Jackson Laboratory View details →
Cell Lines SCA5 KOLF2.1J SPTBN2 25.2kbdel DEL/DEL Cell type hiPSC Causal gene(s) SPTBN2 Mutation Complete SPTBN2 knock-out using CRISPR/Cas9 RRID CVCL_E7NR Originating lab The Jackson Laboratory View details →
Cell Lines SCA28 L-10182 Cell type Fibroblast Causal gene(s) AFG3L2 Mutation c.2167G>A p.V723M c.1847A>G p.Y616C (comp. heterozygous); affected son of L-11388 Originating lab University of Lübeck View details →
Cell Lines SCA28 L-11388 Cell type Fibroblast Causal gene(s) AFG3L2 Mutation c.1847A>G p.Y616C (heterozygous); unaffected mother from L10182 Originating lab University of Lübeck View details →
Mouse Models FXTAS L7CGG90Fmr1 Model type Transgenic Mouse strain C57BL/6J Causal gene(s) FMR1 Mutation Specific expression of CGG repeats in Fmr1 in Purkinje neurons Originating lab Baylor College of Medicine View details →
Cell Lines SCA1 LUMCi002-A, B and C Cell type hiPSC Causal gene(s) ATXN1 Mutation 29/46 CAG RRID CVCL_VE42, CVCL_VE43, CVCL_VE44 Originating lab Leiden University Medical Center View details →
Cell Lines SCA1 LUMCi022-A, B and C Cell type hiPSC Causal gene(s) ATXN1 Mutation 30/47 CAG RRID CVCL_ZA11, CVCL_ZA12, CVCL_ZA13 Originating lab Leiden University Medical Center View details →
