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

Adele G Marthaler; Benjamin Schmid; Alisa Tubsuwan; Ulla B Poulsen; Poul Hyttel; Troels T Nielsen; Jørgen E Nielsen; Bjørn Holst

doi:10.1016/j.scr.2015.12.049

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

Stem Cell Res. 2016 Jan;16(1):199-201. doi: 10.1016/j.scr.2015.12.049. Epub 2016 Jan 15.

Authors

Adele G Marthaler¹, Benjamin Schmid², Alisa Tubsuwan³, Ulla B Poulsen², Poul Hyttel⁴, Troels T Nielsen⁵, Jørgen E Nielsen⁵, Bjørn Holst²

Affiliations

¹ 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.
² Bioneer A/S, Kogle Allé 2, 2970 Hørsholm, Denmark.
³ Bioneer A/S, Kogle Allé 2, 2970 Hørsholm, Denmark; Stem Cell Research Group, Institute of Molecular Biosciences, Mahidol University, Nakhon Pathom, 73170, Thailand.
⁴ Department of Clinical and Veterinary Animal Science, Copenhagen University, Grønnegårdsvej 7, 1870 Frederiksberg, C, Denmark.
⁵ Neurogenetic Research Laboratory, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.

PMID: 27345814
DOI: 10.1016/j.scr.2015.12.049

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.

Publication types

Research Support, Non-U.S. Gov't

MeSH terms

Alleles
Ataxin-2 / genetics
Base Sequence
Cell Differentiation
Cell Line
Cellular Reprogramming
Humans
Induced Pluripotent Stem Cells / cytology*
Induced Pluripotent Stem Cells / metabolism
Karyotype
Male
Molecular Sequence Data
Plasmids / metabolism
Sequence Analysis, DNA
Spinocerebellar Ataxias / metabolism
Spinocerebellar Ataxias / pathology*
Transcription Factors / genetics
Transcription Factors / metabolism
Transfection

Substances

ATXN2 protein, human
Ataxin-2
Transcription Factors