@article{ed8d22967f7f4d1dabbcaaa941f6b1ae,
title = "Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266",
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.",
keywords = "Alleles, Ataxin-2, Base Sequence, CRISPR-Cas Systems, Cell Differentiation, Cell Line, Cellular Reprogramming, Female, Genotype, Humans, Induced Pluripotent Stem Cells, Karyotype, Molecular Sequence Data, Plasmids, Sequence Analysis, DNA, Spinocerebellar Ataxias, Transcription Factors, Transfection, Journal Article, Research Support, Non-U.S. Gov't",
author = "Marthaler, {Adele Gabriele} and Alisa Tubsuwan and Benjamin Schmid and Poulsen, {Ulla B.} and Engelbrecht, {Alexander F.} and Mau-Holzmann, {Ulrike A.} and Poul Hyttel and Nielsen, {Troels Tolstrup} and Nielsen, {J{\o}rgen Erik} and Bj{\o}rn Holst",
note = "Copyright {\textcopyright} 2016. Published by Elsevier B.V.",
year = "2016",
month = jan,
day = "1",
doi = "10.1016/j.scr.2015.12.048",
language = "English",
volume = "16",
pages = "202--205",
journal = "Stem Cell Research",
issn = "1873-5061",
publisher = "Elsevier",
number = "1",
}