Cell Lines
SCA1
Publication
11-036
Identification
- Causal gene(s)
- ATXN1
- Repeat size or mutation
- 30/41 CAG
- Cell type
- hiPSC
Source & Publications
- Originating lab / institution
- University of Minnesota
- Links to publications or public resources
-
- ATXN1-CIC Complex Is the Primary Driver of Cerebellar Pathology in Spinocerebellar Ataxia Type 1 through a Gain-of-Function Mechanism - PubMed
- Expanded ATXN1 alters transcription and calcium signaling in SCA1 human motor neurons differentiated from induced pluripotent stem cells - PubMed
- Cas9 editing of ATXN1 in a spinocerebellar ataxia type 1 mice and human iPSC-derived neurons - PubMed
Some fields are restricted to approved researchers. Log in to view them.