Marthaler Adele G, Schmid Benjamin, Tubsuwan Alisa, Poulsen Ulla B, Engelbrecht Alexander F, Mau-Holzmann Ulrike A, Hyttel Poul, Nielsen Jørgen E, Nielsen Troels T, Holst Bjørn
Department 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.
Bioneer A/S, Kogle Allé 2, 2970 Hørsholm, Denmark.
Stem Cell Res. 2016 Jan;16(1):180-3. doi: 10.1016/j.scr.2015.12.028. Epub 2016 Jan 3.
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. We have successfully generated bona fide induced pluripotent stem cell (iPSC) lines of SCA2 patients in order to study a disease-specific phenotype. Here, we demonstrate the gene correction of the iPSC line H271 clone 1 where we have exchanged the expanded CAG repeat of the ATXN2 gene with the normal length found in healthy alleles. This gene corrected cell line will provide the ideal control to model SCA2 by iPSC technology.
