端粒
外周血单个核细胞
生物
重编程
核型
染色体不稳定性
免疫学
基因组不稳定性
端粒酶
沃纳综合征
表型
癌症研究
遗传学
基因
染色体
解旋酶
DNA损伤
DNA
核糖核酸
体外
作者
Vincent Gatinois,Romain Desprat,Fabienne Becker,Lydiane Pichard,Florence Bernex,L. Collet,Franck Pellestor,Jean-Marc Lemaı̂tre
标识
DOI:10.1016/j.scr.2019.101515
摘要
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.
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