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Article

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

Stem cell research - 1 May 2021

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

Abstract excerpt

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),...

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PMID: 33706202
DOI: 10.1016/j.scr.2021.102277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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