Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene

Childhood-onset torsin dystonia (DYT1) is a rare hereditary movement disorder and usually caused by a heterozygous GAG deletion (c.907–909) in the TOR1A gene (ΔE, p.Glu303del). The neuronal functions of torsin proteins and the pathogenesis of ΔE mutation are not clear. Previously, we have generated...

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Main Authors: Masuma Akter, Haochen Cui, Yi-Hsien Chen, Baojin Ding
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2022-07-01
Serija:Stem Cell Research
Online dostop:http://www.sciencedirect.com/science/article/pii/S1873506122001568
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