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

Junjiao Wu; Jie Ren; Hui Luo; Xiaoxia Zuo; Yu Tang

Stem Cell Research (May 2021)

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

Junjiao Wu,
Jie Ren,
Hui Luo,
Xiaoxia Zuo,
Yu Tang

Affiliations

Junjiao Wu: Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha 410008, China; Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital, Central South University, Changsha 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China
Jie Ren: Department of Geriatrics, Xiangya Hospital, Central South University, Changsha 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China
Hui Luo: Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha 410008, China; Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital, Central South University, Changsha 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China
Xiaoxia Zuo: Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha 410008, China; Provincial Clinical Research Center for Rheumatic and Immunologic Diseases, Xiangya Hospital, Central South University, Changsha 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China
Yu Tang: Department of Geriatrics, Xiangya Hospital, Central South University, Changsha 410008, China; National Clinical Research Center for Geriatric Disorders, Xiangya Hospital, Central South University, Changsha 410008, China; Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan 410008, China; Key Laboratory of Hunan Province in Neurodegenerative Disorders, Central South University, Changsha, Hunan 410008, China; Corresponding author at: Department of Geriatrics, Xiangya Hospital, Central South University, Changsha 410008, China.

Journal volume & issue: Vol. 53
p. 102277

Abstract

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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.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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