Učitavanje...

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...

Cijeli opis

Spremljeno u:
Bibliografski detalji
Glavni autori: Masuma Akter, Haochen Cui, Yi-Hsien Chen, Baojin Ding
Format: Artigo
Jezik:Inglês
Izdano: Elsevier 2022-07-01
Serija:Stem Cell Research
Online pristup:http://www.sciencedirect.com/science/article/pii/S1873506122001568
Oznake: Dodaj oznaku
Bez oznaka, Budi prvi tko označuje ovaj zapis!