Cell Lines SACS/ARSACS/SPAX6 Publication

Pt1

Identification

Causal gene(s)
SACS
Repeat size or mutation
c.5719C > T/c.12630_12634delTGAAA
Cell type
Fibroblast

Donor Information

Donor gender
female
Age at disease onset (years)
2
Age at collection (years)
38

Source & Publications

Originating lab / institution
IRCCS Stella Maris / Federico II University

Twenty Twenty-Five

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