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464 resources

Name / ID Type Disease RRID Causal gene(s) Mutation Originating lab
IGIBi0011-A Cell Lines SCA12 CVCL_D5AE PPP2R2B 9/58 CAG Institute of Genomics and Integrative Biology (CSIR-IGIB)
IGIBi002-A Cell Lines SCA12 CVCL_VN63 PPP2R2B 14/59 CAG Institute of Genomics and Integrative Biology (CSIR-IGIB)
IGIBi003-A Cell Lines SCA12 CVCL_VN64 PPP2R2B 10/67 CAG Institute of Genomics and Integrative Biology (CSIR-IGIB)
IGIBi004-A Cell Lines SCA12 CVCL_VN65 PPP2R2B 17/65 CAG Institute of Genomics and Integrative Biology (CSIR-IGIB)
iHF SCA3 Cell Lines SCA3 — ATXN3 23/67 CAG University of Tübingen
II Cell Lines CANVAS — RFC1 AAGGGn expansion + C.2876 del Massachusetts General Hospital and Harvard Medical School
III.4 (unaffected) Cell Lines SCA10 — ATXN10 143/130 ATTCT repeats (pure repeat type, unaffected individual) Stanford University School of Medicine
III.6 (unaffected) Cell Lines SCA10 — ATXN10 ?/? ATTCT repeats (pure repeat type, unaffected individual) Stanford University School of Medicine
INNDSUi008-A Cell Lines SCA3 CVCL_E4K5 ATXN3 67 CAG Shandong University
INSRMe010-A Cell Lines SCA2 CVCL_C088 ATXN2 — INSERM (INSRM)
iSCA2 E209-6, 9 Cell Lines SCA2 CVCL_XI53, CVCL_XI54 ATXN2 44/22 CAG Academia Sinica
iSCA2-17, 28 Cell Lines SCA2 CVCL_XI51, CVCL_XI52 ATXN2 35/22 CAG Academia Sinica
iSCA3 E149-10, 12 Cell Lines SCA3 CVCL_XI57, CVCL_XI58 ATXN3 73/14 CAG Academia Sinica
iSCA3-1, 36 Cell Lines SCA3 CVCL_XI55, CVCL_XI56 ATXN3 70/37 CAG Academia Sinica
IV.7 (unaffected) Cell Lines SCA10 — ATXN10 271/49 ATTCT repeats (pure repeat type, unaffected individual) Stanford University School of Medicine
JHUi003-A; Homozygous Cell Lines SCA12 CVCL_A8HK PPP2R2B 72/69 CAG; Homozygous line, CRISPR/Cas derived from: JHUi003-A; Heterozygous Johns Hopkins University
JHUi004-A Cell Lines SCA12 — PPP2R2B 14/73 CAG; CRISPR/Cas modified from JHUi004-A; Ctrl line Johns Hopkins University
JHUi004-A; Ctrl line Cell Lines SCA12 — PPP2R2B 14/10 CAG; parental line of: JHUi004-A Johns Hopkins University
JUCTCi002-A Cell Lines AOA1 — APTX c.837G > A (p.Trp279Ter) (homozygous) The University of Jordan
JUCTCi002-A, -B, -C Cell Lines AOA1 CVCL_A9I3, CVCL_A9I4, CVCL_A9I5 APTX c.837G > A (p.Trp279Ter) (homozygous) The University of Jordan
KCGMHi003-A Cell Lines SCA8 — ATXN8 or ATXN8OS >70 CTG repeats Kaohsiun chang Gung Memorial Hospital
Kcna-/- mice Mouse Models EA1 — KCNA1 Homozygous Kcna1 knockout University of Washington
Kcna1V408A/+ Mouse Models EA1 — KCNA1 Heterozygous V408A mutation in the Kcna1 gene Oregon Health & Sciences University
Kcnd3 F227del mutant mice Mouse Models SCA19/22 — KCND3 Knock-in of Kcnd3 F227del, both heterozygous and homozygous  National Yang Ming Chiao Tung University
Kcnd3 KO mice Mouse Models SCA19/22 — KCND3 Knockout of Kcnd3  National Yang Ming Chiao Tung University
KOLF2.1J COQ2 M128V REV/WT Cell Lines MSA/OPCA CVCL_E7K6 COQ2 CRISPR/Cas9 engineered revertant of the heterozygously edited COQ2 p.Met78Val The Jackson Laboratory
KOLF2.1J COQ2 M128V SNV/SNV Cell Lines MSA/OPCA CVCL_E7K7 COQ2 CRISPR/Cas9 engineered homozygous edited COQ2 p.Met78Val The Jackson Laboratory
KOLF2.1J COQ2 M128V SNV/WT Cell Lines MSA/OPCA CVCL_E7K8 COQ2 CRISPR/Cas9 engineered heterozygous edited COQ2 p.Met78Val The Jackson Laboratory
KOLF2.1J KCNC3 R420H REV/WT Cell Lines SCA13 CVCL_E7LC KCNC3 Control cell line: CRISPR/Cas9 revertant of KOLF2.1J KCNC3 R420H SNV/WT The Jackson Laboratory
KOLF2.1J KCNC3 R420H SNV/SNV Cell Lines SCA13 CVCL_E7LD KCNC3 CRISPR/Cas9 edited from parental line; KCNC3 c.1259G>A (homozygous; p.Arg420His) The Jackson Laboratory
KOLF2.1J KCNC3 R420H SNV/WT Cell Lines SCA13 CVCL_E7LE KCNC3 CRISPR/Cas9 edited from parental line; KCNC3 c.1259G>A (heterozygous; p.Arg420His) The Jackson Laboratory
KOLF2.1J PRKCG F643L REV/WT Cell Lines SCA14 CVCL_E7LY RKCG CRISPR/Cas9 engineered revertant of the heterozygously edited PRKCG p.Phe643Leu (c.1927T>C) The Jackson Laboratory
KOLF2.1J PRKCG F643L SNV/SNV Cell Lines SCA14 CVCL_E7LZ RKCG CRISPR/Cas9 engineered homozygous edited PRKCG p.Phe643Leu (c.1927T>C) The Jackson Laboratory
KOLF2.1J PRKCG F643L SNV/WT Cell Lines SCA14 CVCL_E7M0 RKCG CRISPR/Cas9 engineered heterozygous edited PRKCG p.Phe643Leu (c.1927T>C) The Jackson Laboratory
KOLF2.1J SPTBN2 25.2kbdel DEL/DEL Cell Lines SCA5 CVCL_E7NR SPTBN2 Complete SPTBN2 knock-out using CRISPR/Cas9 The Jackson Laboratory
L-10182 Cell Lines SCA28 — AFG3L2 c.2167G>A p.V723M c.1847A>G p.Y616C (comp. heterozygous); affected son of L-11388 University of Lübeck
L-11388 Cell Lines SCA28 — AFG3L2 c.1847A>G p.Y616C (heterozygous); unaffected mother from L10182 University of Lübeck
L7CGG90Fmr1 Mouse Models FXTAS — FMR1 Specific expression of CGG repeats in Fmr1 in Purkinje neurons Baylor College of Medicine
LUMCi002-A, B and C Cell Lines SCA1 CVCL_VE42, CVCL_VE43, CVCL_VE44 ATXN1 29/46 CAG Leiden University Medical Center
LUMCi022-A, B and C Cell Lines SCA1 CVCL_ZA11, CVCL_ZA12, CVCL_ZA13 ATXN1 30/47 CAG Leiden University Medical Center
LUMCi023-A-1 Cell Lines SCA1 — ATXN1 26/37 CAG Leiden University Medical Center
LUMCi023-A-2 Cell Lines SCA1 — ATXN1 26/42 CAG Leiden University Medical Center
LUMCi023-A-3 Cell Lines SCA1 — ATXN1 29/56 CAG Leiden University Medical Center
LUMCi023-A-4 Cell Lines SCA1 — ATXN1 42/48 CAG Leiden University Medical Center
LUMCi032-A and B Cell Lines SCA1 — ATXN1 32/50 CAG Leiden University Medical Center
LUMCi034-A, B and C Cell Lines SCA1 CVCL_VE43 ATXN1 30/51 CAG Leiden University Medical Center
LUMCi051-A Cell Lines SCA7 CVCL_D6SI ATXN7 10/61 CAG Leiden University Medical Center
LUMCi051-B Cell Lines SCA7 CVCL_D6SM ATXN7 10/63 CAG Leiden University Medical Center
LUMCi052-A Cell Lines SCA7 CVCL_D6SJ ATXN7 10/60 CAG Leiden University Medical Center
LUMCi052-B Cell Lines SCA7 CVCL_D6SK ATXN7 10/66 CAG Leiden University Medical Center
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