Generation of three induced pluripotent stem cell lines from individuals with Aicardi-Goutières syndrome caused by a c.3019G>A (p.G1007R) autosomal dominant pathogenic variant in ADAR1.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
28 Dec 2023
28 Dec 2023
Historique:
received:
20
10
2023
revised:
21
12
2023
accepted:
26
12
2023
medline:
6
1
2024
pubmed:
6
1
2024
entrez:
5
1
2024
Statut:
aheadofprint
Résumé
Mutations in Adenosine deaminase acting on RNA 1 (ADAR1) gene encoding RNA editing enzyme ADAR1 results in the neuroinflammatory leukodystrophy Aicardi Goutières Syndrome (AGS). AGS is an early onset leukoencephalopathy with an exacerbated interferon response leading to neurological regression with intellectual disability, spasticity, and motor deficits. We have generated three induced pluripotent stem cell (iPSC) lines from peripheral blood mononuclear cells (PBMCs) of individuals with ADAR1
Identifiants
pubmed: 38181636
pii: S1873-5061(23)00285-4
doi: 10.1016/j.scr.2023.103299
pii:
doi:
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
103299Informations de copyright
Copyright © 2023. Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of competing interest The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Adeline Vanderver reports financial support was provided by Commonwealth Universal Research Enhancement (C.U.R.E.), U01 (NS106845) and R21 Grant. Adeline Vanderver Eli Lilly, Boehringer Ingelhiem, Gilead, Biogen, Illumina, Takeda, Orchard, Passage Bio, Homology, Myrtelle, Synaptixbio, Sanofi, Sana, Affinia related to work in the leukodystrophies.