Cell Lines SPG7 Publication

11/082

Identification

Causal gene(s)
SPG7
Repeat size or mutation
c.1529C>T (het) and p.A510V (exon 11) and c.1727C>G (het) and p.S576W (exon 13)
Cell type
Fibroblast

Donor Information

Donor gender
male
Age at collection (years)
58

Source & Publications

Originating lab / institution
University of Sydney

Twenty Twenty-Five

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