Cell Lines
SACS/ARSACS/SPAX6
Publication
Pt3
Identification
- Causal gene(s)
- SACS
- Repeat size or mutation
- c.8289_8291delTTC/c.10462_1043delCT
- Cell type
- Fibroblast
Donor Information
- Donor gender
- female
- Age at disease onset (years)
- 18
- Age at collection (years)
- 50
Source & Publications
- Originating lab / institution
- IRCCS Stella Maris / Federico II University
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