Cell Lines SACS/ARSACS/SPAX6 Publication

PN6b

Identification

Causal gene(s)
SACS
Repeat size or mutation
p.[Ser1531fster9];[Arg1645Ter]
Cell type
Fibroblast

Donor Information

Donor gender
male
Age at disease onset (years)
18 months

Source & Publications

Originating lab / institution
University of Milan

Twenty Twenty-Five

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