Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271

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

doi:10.1016/j.scr.2015.12.027

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271

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

4 Citations (Scopus)

46 Downloads (Pure)

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)	159-161
Number of pages	3
ISSN	1873-5061
DOIs	https://doi.org/10.1016/j.scr.2015.12.027
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.2015.12.027Licence: CC BY-NC-ND

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271Final published version, 796 KBLicence: CC BY-NC-ND

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title = "Generation of 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. 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 Alisa Tubsuwan and Benjamin Schmid and Poulsen, {Ulla B.} 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.2015.12.027",

language = "English",

volume = "16",

pages = "159--161",

journal = "Stem Cell Research",

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T1 - Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271

AU - Marthaler, Adele Gabriele

AU - Tubsuwan, Alisa

AU - Schmid, Benjamin

AU - Poulsen, Ulla B.

AU - Hyttel, Poul

AU - Nielsen, Jørgen Erik

AU - Nielsen, Troels Tolstrup

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.2015.12.027

DO - 10.1016/j.scr.2015.12.027

M3 - Journal article

C2 - 27345803

SN - 1873-5061

VL - 16

SP - 159

EP - 161

JO - Stem Cell Research

JF - Stem Cell Research

IS - 1

ER -

Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H271

Abstract

Keywords

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