Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266
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Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266. / Marthaler, Adele Gabriele; Schmid, Benjamin; Tubsuwan, Alisa; Poulsen, Ulla B.; Hyttel, Poul; Nielsen, Troels Tolstrup; Nielsen, Jørgen Erik; Holst, Bjørn.
I: Stem Cell Research, Bind 16, Nr. 1, 01.2016, s. 166-169.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266
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
N1 - Copyright © 2016. 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. 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.2015.12.029
DO - 10.1016/j.scr.2015.12.029
M3 - Journal article
C2 - 27345805
VL - 16
SP - 166
EP - 169
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
IS - 1
ER -
ID: 172821288