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Generation of patient-specific induced pluripotent stem cell line (CSUi002-A) from a patient with isolated dystonia carrying TOR1A mutation

Authors :
Junjiao Wu
Jie Ren
Hui Luo
Xiaoxia Zuo
Yu Tang
Source :
Stem Cell Research, Vol 53, Iss , Pp 102277- (2021)
Publication Year :
2021
Publisher :
Elsevier, 2021.

Abstract

Early onset isolated dystonia (DYT1) is a hereditary neurological movement disease caused by a single amino-acid deletion in torsin A (TOR1A), a gene encoding a membrane-embedded ATPase. In this study, we generated an induced pluripotent stem cell (iPSC) line from fibroblasts of a DYT1 patient by the retroviral transduction of Yamanaka factors. The iPSCs retained the heterozygous TOR1A mutation (p.Glu303del), showed a normal karyotype, expressed pluripotency markers and exhibited the potential to differentiate into three germ layers both in vitro and in vivo. This DYT1 patient-specific iPSC will be used for modeling the dystonia pathophysiology and probably drug screening.

Subjects

Subjects :
Biology (General)
QH301-705.5

Details

Language :
English
ISSN :
18735061
Volume :
53
Issue :
102277-
Database :
Directory of Open Access Journals
Journal :
Stem Cell Research
Publication Type :
Academic Journal
Accession number :
edsdoj.1b9c0406ab354ca0be68b898a19d7175
Document Type :
article
Full Text :
https://doi.org/10.1016/j.scr.2021.102277