Article open access publication

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

Stem Cell Research, Elsevier, ISSN 1873-5061

Volume 16, 1, 2016

DOI:10.1016/j.scr.2015.12.048, Dimensions: pub.1028246639, PMID: 27345815,

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  1. (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. (2) University of Copenhagen, grid.5254.6, KU
  3. (3) Mahidol University, grid.10223.32
  4. (4) Bioneer (Denmark), grid.424169.c
  5. (5) University of Tübingen, grid.10392.39
  6. (6) Neurogenetic Research Laboratory, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Blegdamsvej 9, 2100 Copenhagen, Denmark.

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Description

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.

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Research area: Medicine

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Research area: Medicine

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Times Cited: 11

Field Citation Ratio (FCR): 1.84

Relative Citation ratio (RCR): 0.48

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