Generation of an induced pluripotent stem cell line (EURACi005-A) from a Parkinson's disease patient carrying a homozygous exon 3 deletion in the PRKNgene.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
12 2019
12 2019
Historique:
received:
31
07
2019
revised:
01
10
2019
accepted:
11
10
2019
pubmed:
13
11
2019
medline:
27
6
2020
entrez:
13
11
2019
Statut:
ppublish
Résumé
Mutations in the PRKN gene, encoding parkin, are the most frequent known cause of recessive Parkinson's disease (PD). We report the generation of an induced pluripotent stem cell (iPSC) line of a patient carrying a homozygous deletion of exon 3 in the PRKN gene. Skin fibroblasts were reprogrammed using non-integrating episomal plasmids. The generated cell line (EURACi005-A; iPS-2011) exhibits expression of pluripotency markers, the potential to differentiate into all three germ layers, and a stable karyotype. This iPSC line provides a valuable resource for further research on the pathomechanism and drug testing for PRKN-linked PD.
Identifiants
pubmed: 31715428
pii: S1873-5061(19)30254-5
doi: 10.1016/j.scr.2019.101624
pii:
doi:
Substances chimiques
Ubiquitin-Protein Ligases
EC 2.3.2.27
parkin protein
EC 2.3.2.27
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101624Informations de copyright
Copyright © 2019 The Author(s). Published by Elsevier B.V. All rights reserved.