Cell Lines
SACS/ARSACS/SPAX6
Publication
Patient line 1
Identification
- Causal gene(s)
- SACS
- Repeat size or mutation
- c.8339T>C (p.Phe2780Cys) and c.12416T>C (p.Leu4139Ser)/c.11675C>G (p.Ser3892X) (sibling from patient line 2)
- Cell type
- Fibroblast
Source & Publications
- Originating lab / institution
- UCL Queen Square Institute of Neurology
- Links to publications or public resources
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