期刊
STEM CELL RESEARCH
卷 39, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2019.101515
关键词
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资金
- INSERM
- University of Montpellier
- CHRU Montpellier/SAFE-iPSC facility (INGESTEM consortium Infrastructure en Biology Sante)
- Ligue National Centre le Contre le cancer Equipe Labellisee (2015-2019)
- AOI young researcher from CHU Montpellier
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. VVRN, 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.
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