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

Adele Gabriele Marthaler; Alisa Tubsuwan; Benjamin Schmid; Ulla B. Poulsen; Alexander F. Engelbrecht; Ulrike A. Mau-Holzmann; Poul Hyttel; Troels Tolstrup Nielsen; Jørgen Erik Nielsen; Bjørn Holst

doi:10.1016/j.scr.2015.12.048

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

Adele Gabriele Marthaler, Alisa Tubsuwan, Benjamin Schmid, Ulla B. Poulsen, Alexander F. Engelbrecht, Ulrike A. Mau-Holzmann, Poul Hyttel, Troels Tolstrup Nielsen, Jørgen Erik Nielsen, Bjørn Holst

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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.

Original language	English
Journal	Stem Cell Research
Volume	16
Issue number	1
Pages (from-to)	202-205
Number of pages	4
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2015.12.048
Publication status	Published - 1 Jan 2016

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

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10.1016/j.scr.2015.12.048Licence: CC BY-NC-ND

Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H266Final published version, 735 KBLicence: CC BY-NC-ND

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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

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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",

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year = "2016",

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doi = "10.1016/j.scr.2015.12.048",

language = "English",

volume = "16",

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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

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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

SN - 1873-5061

VL - 16

SP - 202

EP - 205

JO - Stem Cell Research

JF - Stem Cell Research

IS - 1

ER -

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

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Keywords

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