Cell Lines SACS/ARSACS/SPAX6 Publication

Pt5

Identification

Causal gene(s)
SACS
Repeat size or mutation
c.9268_9271delGTTA/c.11319_11321delAAG
Cell type
Fibroblast

Donor Information

Donor gender
male
Age at disease onset (years)
18
Age at collection (years)
50

Source & Publications

Originating lab / institution
IRCCS Stella Maris / Federico II University

Twenty Twenty-Five

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