Cell Lines
SACS/ARSACS/SPAX6
Publication
PN5
Identification
- Causal gene(s)
- SACS
- Repeat size or mutation
- p.[(Gly188Glu;Ser2465Leu)];{Leu3916Trp]
- Cell type
- Fibroblast
Donor Information
- Donor gender
- male
- Age at disease onset (years)
- 16
Source & Publications
- Originating lab / institution
- University of Milan
- Links to publications or public resources
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