Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- c.2094-2A > G/Q4054* (compound heterozygous)
- Originating lab
- Obtained from: Radboud University Nijmegen Medical Center
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- K1715*/R4331Q (compound heterozygous)
- Originating lab
- Obtained from: Radboud University Nijmegen Medical Center
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- p.2801delQ (homozygous)
- Originating lab
- Obtained from: Radboud University Nijmegen Medical Center
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Cell Lines
SCA3
- Cell type
- Fibroblast
- Causal gene(s)
- ATXN3
- Mutation
- 72 CAG
- Originating lab
- University Medical Center Groningen (UMCG)
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Cell Lines
SCA3
- Cell type
- Fibroblast
- Causal gene(s)
- ATXN3
- Mutation
- 64 CAG
- Originating lab
- University Medical Center Groningen (UMCG)
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Cell Lines
AOA1
- Cell type
- Fibroblast
- Causal gene(s)
- APTX
- Mutation
- pW279X/pQ181X
- Originating lab
- Istituto Neurologico Carlo Besta
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Mouse Models
MSA/OPCA
- Model type
- Transgenic
- Mouse strain
- C57Bl/C3H
- Causal gene(s)
- Sporadic
- Mutation
- WT (M7, M12, M20) and mutant (M83, M91) A53T human α-syn, both hetero- and homozygous
- Originating lab
- University of Pennsylvania School of Medicine
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- Protein change: p.I513V (missense homozygous variant)
- Originating lab
- University of Bordeaux
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- Protein change: p.R961*(nonsense+missense heterozygous variant)
- Originating lab
- University of Bordeaux
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- Protein change: p.R272H (missense homozygous variant)
- Originating lab
- University of Bordeaux
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- Protein change: p.P2099L (missense homozygous variant)
- Originating lab
- University of Bordeaux
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- Protein change: p.V3545Efs*3 (nonsense compound heterozygous variant)
- Originating lab
- University of Bordeaux
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- Protein change: p.L143Lfs*10 (nonsense compound heterozygous variant)
- Originating lab
- University of Bordeaux
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- Protein change: p.F2056Ffs*21 (nonsense+missense heterozygous variant)
- Originating lab
- University of Bordeaux
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Mouse Models
AVED
- Model type
- Knockout
- Mouse strain
- C57BL/6J
- Causal gene(s)
- TTPA
- Mutation
- Homozygous Ttpa knock-out mice
- Originating lab
- Chugai Pharmaceutical Co., Ltd.
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Mouse Models
AVED
- Model type
- Heterozygous KO
- Mouse strain
- C57BL/6J
- Causal gene(s)
- TTPA
- Mutation
- Heterozygous Ttpa knock-out mice
- Originating lab
- Chugai Pharmaceutical Co., Ltd.
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- Protein change: p.C1285Lfs*8 /(nonsense heterozygous variant)
- Originating lab
- University of Bordeaux
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Mouse Models
AOA1
- Model type
- Knockout
- Causal gene(s)
- APTX
- Mutation
- Aptx homozygous knockout mice
- Originating lab
- London Research Institute
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- p.F2780C & p.S3892* (missense/nonsense mutation)
- Originating lab
- Queen Mary University of London
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Cell Lines
SACS/ARSACS/SPAX6
- Cell type
- Fibroblast
- Causal gene(s)
- SACS
- Mutation
- c.5151dupA (p.Ser1718fsX1736) (heterozygous carrier)
- Originating lab
- UCL Queen Square Institute of Neurology
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