Reprogramming of Human Peripheral Blood Mononuclear Cell (PBMC) from a patient suffering of a Werner syndrome resulting in iPSC line (REGUi003-A) maintaining a short telomere length.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
08 2019
08 2019
Historique:
received:
19
05
2019
revised:
17
07
2019
accepted:
25
07
2019
pubmed:
14
8
2019
medline:
28
4
2020
entrez:
13
8
2019
Statut:
ppublish
Résumé
Werner syndrome (WS) is a rare human autosomal recessive disorder characterized by early onset of aging-associated diseases, chromosomal instability, and cancer predisposition, without therapeutic treatment solution. Major clinical symptoms of WS include common age-associated diseases, such as insulin-resistant diabetes mellitus, and atherosclerosis. WRN, the gene responsible for the disease, encodes a RECQL-type DNA helicase with a role in telomere metabolism. We derived a stable iPSC line from 53 years old patient's PBMC, with a normal karyotype, but exhibiting a short telomere length, as a major aspect of the cellular phenotype involved in the pathology.
Identifiants
pubmed: 31404747
pii: S1873-5061(19)30145-X
doi: 10.1016/j.scr.2019.101515
pii:
doi:
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101515Informations de copyright
Copyright © 2019 The Authors. Published by Elsevier B.V. All rights reserved.