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464 resources

Name / ID Type Disease RRID Causal gene(s) Mutation Originating lab
AAR-519-001 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.P2099L (missense homozygous variant) University of Bordeaux
AAR-545-003 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.V3545Efs*3 (nonsense compound heterozygous variant) University of Bordeaux
AAR-601-003 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.L143Lfs*10 (nonsense compound heterozygous variant) University of Bordeaux
AFT-068-005 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.F2056Ffs*21 (nonsense+missense heterozygous variant) University of Bordeaux
alpha-TTP(-/-) mice Mouse Models AVED — TTPA Homozygous Ttpa knock-out mice Chugai Pharmaceutical Co., Ltd.
alpha-TTP(+/-) mice Mouse Models AVED — TTPA Heterozygous Ttpa knock-out mice Chugai Pharmaceutical Co., Ltd.
ANG-120054380-003 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.C1285Lfs*8 /(nonsense heterozygous variant) University of Bordeaux
Aptx-/- mice Mouse Models AOA1 — APTX Aptx homozygous knockout mice London Research Institute
ARSACS 3 Cell Lines SACS/ARSACS/SPAX6 — SACS p.F2780C & p.S3892* (missense/nonsense mutation) Queen Mary University of London
ARSACS carrier line Cell Lines SACS/ARSACS/SPAX6 — SACS c.5151dupA (p.Ser1718fsX1736) (heterozygous carrier) UCL Queen Square Institute of Neurology
AT-FL-65Q Mouse Models DRPLA RRID: MMRRC_000398-MU ATN1 65Q Johns Hopkins University School of Medicine
AT-FL-65Q;GFP-LC3 Mouse Models DRPLA — ATN1 65Q with GFP-LC3 King's College London
At65QmNES mice Mouse Models DRPLA — ATN1 65Q with alteration of nuclear export signal Johns Hopkins University School of Medicine
At65QmNLS mice Mouse Models DRPLA — ATN1 65Q with alteration of nuclear localization signal Johns Hopkins University School of Medicine
AtmR35X/+; Aptx-/- mice Mouse Models AOA1 — APTX Aptx homozygous knockout with heterozygous R35X mutation in Atm gene (causing ataxia telangiectasia) mice Harbor UCLA medical Center
AtmR35X/R35X; Aptx-/- mice Mouse Models AOA1 — APTX Aptx homozygous knockout with homozygous R35X mutation in Atm gene (causing ataxia telangiectasia) mice Harbor UCLA medical Center
AtmR35X/R35X; Aptx-/+ mice Mouse Models AOA1 — APTX Aptx heterozygous knockout with homozygous R35X mutation in Atm gene (causing ataxia telangiectasia) mice Harbor UCLA medical Center
Atro-118Q transgenic mice Mouse Models DRPLA — ATN1 118Q Morgan-Tan International Center for Life Sciences
Ax-1 Cell Lines SCA2 — ATXN2 23/36 CAG University of Tübingen
Ax-2 Cell Lines SCA2 — ATXN2 22/42 CAG University of Tübingen
AX-25 Cell Lines SCA3 — ATXN3 70 CAG University of Tübingen
AX-26 Cell Lines SCA3 — ATXN3 73 CAG University of Tübingen
AX-27 Cell Lines SCA3 — ATXN3 76 CAG University of Tübingen
Ax-3 Cell Lines SCA2 — ATXN2 22/38 CAG University of Tübingen
AX1 Cell Lines SCA3 — ATXN3 23/70 CAG University of Tübingen
AX2 Cell Lines SCA3 — ATXN3 26/77 CAG University of Tübingen
AX3 Cell Lines SCA3 — ATXN3 24/73 CAG University of Tübingen
BOR-090711-003 Cell Lines SACS/ARSACS/SPAX6 — SACS Protein change: p.L1180Lfs*7 (nonsense compound heterozygous variant) University of Bordeaux
C1 (MSA-C) Cell Lines MSA/OPCA — ? — University of Milan
C111 Cell Lines SCA3 — ATXN3 13 CAG Chinese Academy of Sciences
C118 Cell Lines SCA3 — ATXN3 13 CAG Chinese Academy of Sciences
C2 (MSA-C) Cell Lines MSA/OPCA — ? Homozygous COQ2 variant (p.A43G) University of Milan
C206 Cell Lines SCA3 — ATXN3 13 CAG Chinese Academy of Sciences
C21 Cell Lines SCA3 — ATXN3 13 CAG Chinese Academy of Sciences
CANVAS 1P Cell Lines CANVAS — RFC1 ~380/1200 AAGGG Michigan Medicine; pub: University of Michigan
CANVAS 1P Isogenic Cell Lines CANVAS — RFC1 Deletion expanded allele; ~0/1200 AAGGG Michigan Medicine; pub: University of Michigan
CANVAS 2C Heterozygous Cell Lines CANVAS — RFC1 ~0/1300 AAGGG Michigan Medicine; pub: University of Michigan
CANVAS 2P Cell Lines CANVAS — RFC1 ~800/1000 AAGGG Michigan Medicine; pub: University of Michigan
CANVAS 3P Cell Lines CANVAS — RFC1 ~800/900 AAGGG Michigan Medicine; pub: University of Michigan
CANVAS 4P Cell Lines CANVAS — RFC1 ~1080/1180 AAGGG Laboratory of Vikram Khuruna, Harvard Medicine pub: University of Michigan
CBIGi001-A-29 Cell Lines SCA3 — ATXN3 ATXN3 KO Clinical biospecimen Imaging and Genetic Repository (CBIG)
CENSOi020-A Cell Lines SCA2 CVCL_WP18 ATXN2 22/38 CAG Censo and Axol Bioscience Company (CENSO)
CENSOi021-A Cell Lines SCA3 CVCL_WP19 ATXN3 69/14 CAG Censo and Axol Bioscience Company (CENSO)
CENSOi022-A Cell Lines SCA3 CVCL_WP20 ATXN3 70/26 CAG Censo and Axol Bioscience Company (CENSO)
CENSOi033-A Cell Lines SCA3 CVCL_WP38 ATXN3 69/25 CAG Censo and Axol Bioscience Company (CENSO)
CENSOi034-A Cell Lines SCA3 CVCL_WP39 ATXN3 66/29 CAG Censo and Axol Bioscience Company (CENSO)
CENSOi036-A Cell Lines SCA7 CVCL_WP42 ATXN7 39/10 CAG Censo and Axol Bioscience Company (CENSO)
CENSOi051-A, B Cell Lines SCA2 CVCL_WP60, CVCL_YC22 ATXN2 22/36 CAG Censo and Axol Bioscience Company (CENSO)
CENSOi056-A Cell Lines SCA6 CVCL_WP65 CACNA1A 23 CAG Censo and Axol Bioscience Company (CENSO)
CENSOi057-A, B Cell Lines SCA2 CVCL_WP66, CVCL_YC24 ATXN2 22/39 CAG Censo and Axol Bioscience Company (CENSO)
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