Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266

Adele G Marthaler, Alisa Tubsuwan, Benjamin Schmid, Ulla B Poulsen, Alexander F Engelbrecht, Ulrike A Mau-Holzmann, Poul Hyttel, Troels T Nielsen, Jørgen E Nielsen, Bjørn Holst

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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. 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 H266 clone 10 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.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind16
Udgave nummer1
Sider (fra-til)202-5
Antal sider4
ISSN1873-5061
DOI
StatusUdgivet - jan. 2016

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