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Updated: Mar 18, 2026

Modeling Human Cerebellar Development In Vitro in 2D Structure
Published on: September 16, 2022
Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271
Adele G Marthaler1, Alisa Tubsuwan2, Benjamin Schmid3
1Department of Clinical and Veterinary Animal Science, Copenhagen University, Grønnegårdsvej 7, 1870 Frederiksberg, C, Denmark; Neurogenetic Research Laboratory, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.
Abstract:
Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms underlying the disease and, to date, no cure or treatment is available. Here, we demonstrate the generation of an induced pluripotent stem cell (iPSC) line of a SCA2 patient. The selected clone has been proven to be a bona fide iPSC line, which retains a normal karyotype. Due to its differentiation potential into neurons, this iPSC line will be a valuable tool in studying a disease-specific phenotype of SCA2.
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