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

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

doi:10.1016/j.scr.2015.12.028

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

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

Original language	English
Journal	Stem Cell Research
Volume	16
Issue number	1
Pages (from-to)	180-183
Number of pages	4
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2015.12.028
Publication status	Published - 1 Jan 2016

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

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10.1016/j.scr.2015.12.028Licence: CC BY-NC-ND

Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271Final published version, 630 KBLicence: CC BY-NC-ND

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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

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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",

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year = "2016",

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doi = "10.1016/j.scr.2015.12.028",

language = "English",

volume = "16",

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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

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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 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

SN - 1873-5061

VL - 16

SP - 180

EP - 183

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 H271

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Keywords

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