Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

Adele Gabriele Marthaler, Benjamin Schmid, Alisa Tubsuwan, Ulla B. Poulsen, Poul Hyttel, Troels Tolstrup Nielsen, Jørgen Erik 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. 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.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind16
Udgave nummer1
Sider (fra-til)199-201
Antal sider3
ISSN1873-5061
DOI
StatusUdgivet - 1 jan. 2016

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