Generation of an induced pluripotent stem cell JTUi005-A from a patient with neuronal intranuclear inclusion disease.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
12 2022
12 2022
Historique:
received:
08
01
2022
revised:
15
08
2022
accepted:
08
10
2022
pubmed:
17
10
2022
medline:
15
12
2022
entrez:
16
10
2022
Statut:
ppublish
Résumé
Neuronal intranuclear inclusion disease is a neurodegenerative disease caused by expansion of GGC repeats in the 5' untranslated region (5' UTR) of NOTCH2NLC. An induced pluripotent stem cell (iPSC) line was generated from peripheral blood mononuclear cells of a 55-year-old male patient by expressing a defined set of reprogramming factors (OCT4, SOX2, NANOG, LIN28, c-MYC and KLF4) carried on episomal vectors, and was validated for stem cell-like pluripotency, normal karyotype and capability of in vivo differentiation into three germ layers. The NIID-iPSC line serves as a promising tool for further research into pathogenic mechanism and potential therapeutic targets.
Identifiants
pubmed: 36244083
pii: S1873-5061(22)00287-2
doi: 10.1016/j.scr.2022.102938
pii:
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
102938Informations de copyright
Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.
Déclaration de conflit d'intérêts
Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.