Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

Adele Gabriele Marthaler; Benjamin Schmid; Alisa Tubsuwan; Ulla B. Poulsen; Poul Hyttel; Troels Tolstrup Nielsen; Jørgen Erik Nielsen; Bjørn Holst

doi:10.1016/j.scr.2015.12.049

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

Adele Gabriele Marthaler, Benjamin Schmid, Alisa Tubsuwan, Ulla B. Poulsen, Poul Hyttel, Troels Tolstrup Nielsen, Jørgen Erik Nielsen, Bjørn Holst

4 Citations (Scopus)

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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. Here, we demonstrate the generation of an induced pluripotent stem cell (iPSC) line of a SCA2 patient. The selected clone has been proven to be a bona fide iPSC line, which retains a normal karyotype. Due to its differentiation potential into neurons, this iPSC line will be a valuable tool in studying a disease-specific phenotype of SCA2.

Original language	English
Journal	Stem Cell Research
Volume	16
Issue number	1
Pages (from-to)	199-201
Number of pages	3
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2015.12.049
Publication status	Published - 1 Jan 2016

Keywords

Alleles
Ataxin-2
Base Sequence
Cell Differentiation
Cell Line
Cellular Reprogramming
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.2015.12.049Licence: CC BY-NC-ND

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196Final published version, 802 KBLicence: CC BY-NC-ND

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title = "Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196",

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. Here, we demonstrate the generation of an induced pluripotent stem cell (iPSC) line of a SCA2 patient. The selected clone has been proven to be a bona fide iPSC line, which retains a normal karyotype. Due to its differentiation potential into neurons, this iPSC line will be a valuable tool in studying a disease-specific phenotype of SCA2.",

keywords = "Alleles, Ataxin-2, Base Sequence, Cell Differentiation, Cell Line, Cellular Reprogramming, 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 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",

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doi = "10.1016/j.scr.2015.12.049",

language = "English",

volume = "16",

pages = "199--201",

journal = "Stem Cell Research",

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T1 - Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

AU - Marthaler, Adele Gabriele

AU - Schmid, Benjamin

AU - Tubsuwan, Alisa

AU - Poulsen, Ulla B.

AU - Hyttel, Poul

AU - Nielsen, Troels Tolstrup

AU - Nielsen, Jørgen Erik

AU - Holst, Bjørn

PY - 2016/1/1

Y1 - 2016/1/1

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. Here, we demonstrate the generation of an induced pluripotent stem cell (iPSC) line of a SCA2 patient. The selected clone has been proven to be a bona fide iPSC line, which retains a normal karyotype. Due to its differentiation potential into neurons, this iPSC line will be a valuable tool in studying a disease-specific phenotype of SCA2.

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. Here, we demonstrate the generation of an induced pluripotent stem cell (iPSC) line of a SCA2 patient. The selected clone has been proven to be a bona fide iPSC line, which retains a normal karyotype. Due to its differentiation potential into neurons, this iPSC line will be a valuable tool in studying a disease-specific phenotype of SCA2.

KW - Alleles

KW - Ataxin-2

KW - Base Sequence

KW - Cell Differentiation

KW - Cell Line

KW - Cellular Reprogramming

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.2015.12.049

DO - 10.1016/j.scr.2015.12.049

M3 - Journal article

C2 - 27345814

SN - 1873-5061

VL - 16

SP - 199

EP - 201

JO - Stem Cell Research

JF - Stem Cell Research

IS - 1

ER -

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H196

Abstract

Keywords

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