Cell Lines SACS/ARSACS/SPAX6 Publication

PN2

Identification

Causal gene(s)
SACS
Repeat size or mutation
p.[Cys72fsTer4];[(Arg3636Gln;Pro3652Thr)]
Cell type
Fibroblast

Donor Information

Donor gender
male
Age at disease onset (years)
>25

Source & Publications

Originating lab / institution
University of Milan

Twenty Twenty-Five

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