Cell Lines
SACS/ARSACS/SPAX6
Publication
AAR-545-003
Identification
- Causal gene(s)
- SACS
- Repeat size or mutation
- Protein change: p.V3545Efs*3 (nonsense compound heterozygous variant)
- Cell type
- Fibroblast
Donor Information
- Age at disease onset (years)
- 3
- Age at collection (years)
- 21
Source & Publications
- Originating lab / institution
- University of Bordeaux
- Links to publications or public resources
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