Generation of gene-corrected isogenic control cell lines from a DYT1 dystonia patient iPSC line carrying a heterozygous GAG mutation in TOR1A gene.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
07 2022
07 2022
Historique:
received:
11
04
2022
revised:
26
04
2022
accepted:
02
05
2022
pubmed:
10
5
2022
medline:
22
6
2022
entrez:
9
5
2022
Statut:
ppublish
Résumé
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 a hiPSC line from DYT1 patient fibroblast cells. In this study, we genetically corrected GAG deletion and obtained two isogenic control lines. These hiPSC lines contain the wild-type TOR1A sequence, showed the normal stem cell morphology and karyotype, expressed pluripotency markers, and differentiated into three germ layers, providing a valuable resource in DYT1 research.
Identifiants
pubmed: 35533513
pii: S1873-5061(22)00156-8
doi: 10.1016/j.scr.2022.102807
pmc: PMC9366766
mid: NIHMS1817668
pii:
doi:
Substances chimiques
Molecular Chaperones
0
TOR1A protein, human
0
Types de publication
Journal Article
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
102807Subventions
Organisme : NINDS NIH HHS
ID : R21 NS112910
Pays : United States
Informations de copyright
Copyright © 2022 The Author(s). Published by Elsevier B.V. All rights reserved.
Références
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