Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

Susanne K. Hansen; Helena Borland; Lis F. Hasholt; Zeynep Tümer; Jørgen E. Nielsen; Mikkel A. Rasmussen; Troels T. Nielsen; Tina C. Stummann; Karina Fog; Poul Hyttel

doi:10.1016/j.scr.2016.02.042

Stem Cell Research (May 2016)

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

Susanne K. Hansen,
Helena Borland,
Lis F. Hasholt,
Zeynep Tümer,
Jørgen E. Nielsen,
Mikkel A. Rasmussen,
Troels T. Nielsen,
Tina C. Stummann,
Karina Fog,
Poul Hyttel

Affiliations

Susanne K. Hansen: Department of Veterinary Clinical and Animal Sciences, University of Copenhagen, Groennegårdsvej 7, 1870 Frb C, Denmark
Helena Borland: H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark
Lis F. Hasholt: Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 N, Denmark
Zeynep Tümer: Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Gl. Landevej 7, Glostrup 2600, Denmark
Jørgen E. Nielsen: Institute of Cellular and Molecular Medicine, University of Copenhagen, Blegdamsvej 3B, 2200 N, Denmark
Mikkel A. Rasmussen: Bioneer A/S, Kogle Alle 2, 2970 Hoersholm, Denmark
Troels T. Nielsen: Danish Dementia Research Centre, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark
Tina C. Stummann: H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark
Karina Fog: H. Lundbeck A/S, Ottiliavej 9, Valby 2500, Denmark
Poul Hyttel: Department of Veterinary Clinical and Animal Sciences, University of Copenhagen, Groennegårdsvej 7, 1870 Frb C, Denmark

DOI: https://doi.org/10.1016/j.scr.2016.02.042
Journal volume & issue: Vol. 16, no. 3
pp. 589 – 592

Abstract

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Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by an expansion of the CAG-repeat in ATXN3. In this study, induced pluripotent stem cells (iPSCs) were generated from SCA3 patient dermal fibroblasts by electroporation with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. Potentially, this iPSC line could be a useful tool for the investigation of SCA3 disease mechanisms.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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