Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

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Standard

Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271. / Marthaler, Adele Gabriele; Schmid, Benjamin; Tubsuwan, Alisa; Poulsen, Ulla B.; Engelbrecht, Alexander F.; Mau-Holzmann, Ulrike A.; Hyttel, Poul; Nielsen, Jørgen Erik; Nielsen, Troels Tolstrup; Holst, Bjørn.

I: Stem Cell Research, Bind 16, Nr. 1, 01.2016, s. 180-183.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt

Harvard

Marthaler, AG, Schmid, B, Tubsuwan, A, Poulsen, UB, Engelbrecht, AF, Mau-Holzmann, UA, Hyttel, P, Nielsen, JE, Nielsen, TT & Holst, B 2016, 'Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271', Stem Cell Research, bind 16, nr. 1, s. 180-183. https://doi.org/10.1016/j.scr.2015.12.028

APA

Marthaler, A. G., Schmid, B., Tubsuwan, A., Poulsen, U. B., Engelbrecht, A. F., Mau-Holzmann, U. A., Hyttel, P., Nielsen, J. E., Nielsen, T. T., & Holst, B. (2016). Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271. Stem Cell Research, 16(1), 180-183. https://doi.org/10.1016/j.scr.2015.12.028

Vancouver

Marthaler AG, Schmid B, Tubsuwan A, 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 H271. Stem Cell Research. 2016 jan.;16(1):180-183. https://doi.org/10.1016/j.scr.2015.12.028

Author

Marthaler, Adele Gabriele ; Schmid, Benjamin ; Tubsuwan, Alisa ; Poulsen, Ulla B. ; Engelbrecht, Alexander F. ; Mau-Holzmann, Ulrike A. ; Hyttel, Poul ; Nielsen, Jørgen Erik ; Nielsen, Troels Tolstrup ; Holst, Bjørn. / Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271. I: Stem Cell Research. 2016 ; Bind 16, Nr. 1. s. 180-183.

Bibtex

@article{bce91480b2574dbb84baba2fb702216d,
title = "Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271",
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 H271 clone 1 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, Genotype, Humans, Induced Pluripotent Stem Cells, Karyotype, Male, 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 Benjamin Schmid and Alisa Tubsuwan and Poulsen, {Ulla B.} and Engelbrecht, {Alexander F.} and Mau-Holzmann, {Ulrike A.} and Poul Hyttel and Nielsen, {J{\o}rgen Erik} and Nielsen, {Troels Tolstrup} and Bj{\o}rn Holst",
note = "Copyright {\textcopyright} 2015. Published by Elsevier B.V.",
year = "2016",
month = jan,
doi = "10.1016/j.scr.2015.12.028",
language = "English",
volume = "16",
pages = "180--183",
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 H271

AU - Marthaler, Adele Gabriele

AU - Schmid, Benjamin

AU - Tubsuwan, Alisa

AU - Poulsen, Ulla B.

AU - Engelbrecht, Alexander F.

AU - Mau-Holzmann, Ulrike A.

AU - Hyttel, Poul

AU - Nielsen, Jørgen Erik

AU - Nielsen, Troels Tolstrup

AU - Holst, Bjørn

N1 - Copyright © 2015. 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 H271 clone 1 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 H271 clone 1 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 - Genotype

KW - Humans

KW - Induced Pluripotent Stem Cells

KW - Karyotype

KW - Male

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.2015.12.028

DO - 10.1016/j.scr.2015.12.028

M3 - Journal article

C2 - 27345809

VL - 16

SP - 180

EP - 183

JO - Stem Cell Research

JF - Stem Cell Research

SN - 1873-5061

IS - 1

ER -

ID: 172435912