Department of Endocrinology, Hematology and Gerontology, Chiba University Graduate School of Medicine, Chiba, Japan; Division of Diabetes, Metabolism and Endocrinology, Chiba University Hospital, Chiba, Japan.
Department of Regenerative Medicine, Chiba University Graduate School of Medicine, Chiba, Japan; Gene Expression Laboratory, Salk Institute for Biological Studies, La Jolla, CA, USA.
Stem Cell Res. 2021 May;53:102360. doi: 10.1016/j.scr.2021.102360. Epub 2021 Apr 23.
Adult progeria Werner syndrome (WS), a rare autosomal recessive disorder, is characterized by accelerated aging symptoms after puberty. The causative gene, WRN, is a member of the RecQ DNA helicase family and is predominantly involved in DNA replication, repair, and telomere maintenance. Here, we report the generation of iPS cells from a patient with WS and correction of the WRN gene by the CRISPR/Cas9-mediated method. These iPSC lines would be a valuable resource for deciphering the pathogenesis of WS.
成人早衰症 Werner 综合征（WS）是一种罕见的常染色体隐性遗传病，其特征是青春期后出现加速衰老的症状。致病基因 WRN 是 RecQ DNA 解旋酶家族的成员，主要参与 DNA 复制、修复和端粒维护。在这里，我们报告了从 WS 患者中生成 iPS 细胞，并通过 CRISPR/Cas9 介导的方法纠正 WRN 基因。这些 iPSC 系将成为破译 WS 发病机制的宝贵资源。
