iPSC line derived from a Bloom syndrome patient retains an increased disease-specific sister-chromatid exchange activity.
Journal
Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957
Informations de publication
Date de publication:
03 2020
03 2020
Historique:
received:
18
09
2019
revised:
16
12
2019
accepted:
24
12
2019
pubmed:
10
1
2020
medline:
22
1
2021
entrez:
10
1
2020
Statut:
ppublish
Résumé
Bloom syndrome is characterized by severe pre- and postnatal growth deficiency, immune abnormalities, sensitivity to sunlight, insulin resistance, and a high risk for many cancers that occur at an early age. The diagnosis is established on characteristic clinical features and/or presence of biallelic pathogenic variants in the BLM gene. An increased frequency of sister-chromatid exchanges is also observed and can be useful to diagnose BS patients with weak or no clinical features. For the first time, we derived an induced pluripotent cell line from a Bloom syndrome patient retaining the specific sister-chromatid exchange feature as a unique tool to model the pathology.
Identifiants
pubmed: 31918214
pii: S1873-5061(19)30326-5
doi: 10.1016/j.scr.2019.101696
pii:
doi:
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
101696Informations de copyright
Copyright © 2019. Published by Elsevier B.V.
Déclaration de conflit d'intérêts
Declaration of Competing Interest None