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

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Standard

Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266. / Marthaler, Adele Gabriele; Tubsuwan, Alisa; Schmid, Benjamin; Poulsen, Ulla B.; Engelbrecht, Alexander F.; Mau-Holzmann, Ulrike A.; Hyttel, Poul; Nielsen, Troels Tolstrup; Nielsen, Jørgen Erik; Holst, Bjørn.

I: Stem Cell Research, Bind 16, Nr. 1, 01.2016, s. 202-205.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Marthaler, AG, Tubsuwan, A, Schmid, B, Poulsen, UB, Engelbrecht, AF, Mau-Holzmann, UA, Hyttel, P, Nielsen, TT, Nielsen, JE & Holst, B 2016, 'Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266', Stem Cell Research, bind 16, nr. 1, s. 202-205. https://doi.org/10.1016/j.scr.2015.12.048

APA

Marthaler, A. G., Tubsuwan, A., Schmid, B., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, T. T., Nielsen, J. E., & Holst, B. (2016). Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266. Stem Cell Research, 16(1), 202-205. https://doi.org/10.1016/j.scr.2015.12.048

Vancouver

Marthaler AG, Tubsuwan A, Schmid B, Poulsen UB, Engelbrecht AF, Mau-Holzmann UA o.a. Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266. Stem Cell Research. 2016 jan.;16(1):202-205. https://doi.org/10.1016/j.scr.2015.12.048

Author

Marthaler, Adele Gabriele ; Tubsuwan, Alisa ; Schmid, Benjamin ; Poulsen, Ulla B. ; Engelbrecht, Alexander F. ; Mau-Holzmann, Ulrike A. ; Hyttel, Poul ; Nielsen, Troels Tolstrup ; Nielsen, Jørgen Erik ; Holst, Bjørn. / Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266. I: Stem Cell Research. 2016 ; Bind 16, Nr. 1. s. 202-205.

Bibtex

@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,
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",

}

RIS

TY - JOUR

T1 - Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266

AU - Marthaler, Adele Gabriele

AU - Tubsuwan, Alisa

AU - Schmid, Benjamin

AU - Poulsen, Ulla B.

AU - Engelbrecht, Alexander F.

AU - Mau-Holzmann, Ulrike A.

AU - Hyttel, Poul

AU - Nielsen, Troels Tolstrup

AU - Nielsen, Jørgen Erik

AU - Holst, Bjørn

N1 - Copyright © 2016. Published by Elsevier B.V.

PY - 2016/1

Y1 - 2016/1

N2 - 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.

AB - 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.

KW - Alleles

KW - Ataxin-2

KW - Base Sequence

KW - CRISPR-Cas Systems

KW - Cell Differentiation

KW - Cell Line

KW - Cellular Reprogramming

KW - Female

KW - Genotype

KW - Humans

KW - Induced Pluripotent Stem Cells

KW - Karyotype

KW - Molecular Sequence Data

KW - Plasmids

KW - Sequence Analysis, DNA

KW - Spinocerebellar Ataxias

KW - Transcription Factors

KW - Transfection

KW - Journal Article

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

U2 - 10.1016/j.scr.2015.12.048

DO - 10.1016/j.scr.2015.12.048

M3 - Journal article

C2 - 27345815

VL - 16

SP - 202

EP - 205

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

IS - 1

ER -

ID: 173016808