FARSM50-5 – National Ataxia Foundation

National Ataxia Foundation

Identification

Causal gene(s): SACS
Repeat size or mutation: c.8844delT (homozygous)
Cell type: hiPSC

Donor Information

Donor gender: male
Age at collection (years): 50

Source & Publications

Originating lab / institution: Obtained from: CRCHU de Quebec's induced pluripotency stem cells production platform
Links to publications or public resources: In Vitro Characterization of Motor Neurons and Purkinje Cells Differentiated from Induced Pluripotent Stem Cells Generated from Patients with Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay - PubMed

National Ataxia Foundation

Twenty Twenty-Five

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