Cell Lines
SACS/ARSACS/SPAX6
Publication
PN7
Identification
- Causal gene(s)
- SACS
- Repeat size or mutation
- c.13132C > T, p.Arg4378X homozygous
- Cell type
- Fibroblast
Donor Information
- Donor gender
- female
- Age at disease onset (years)
- 14 months
Source & Publications
- Originating lab / institution
- IRCCS Ospedale San Raffaele
- Links to publications or public resources
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