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

Summary

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. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Wu J, Ren J, Luo H, Zuo X, Tang Y
Journal Stem cell research
Publication Date 2021 Mar 4;53:102277
PubMed 33706202
DOI 10.1016/j.scr.2021.102277

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