Generation of disease-specific and CRISPR/Cas9-mediated gene-corrected iPS cells from a patient with adult progeria Werner syndrome
Generation of disease-specific and CRISPR/Cas9-mediated gene-corrected iPS cells from a patient with adult progeria Werner syndrome
复制标题
从成人早衰维尔纳综合征患者中生成疾病特异性和 CRISPR/Cas9 介导的基因校正 iPS 细胞
DOI：
10.1016/j.scr.2021.102360
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发表时间：
2021
影响因子：
1.2
通讯作者：
Yok
中科院分区：
文献类型：
--
作者：
Kato Hisaya;Maezawa Yoshiro;Ouchi Yasuo;Takayama Naoya;Sone Masamitsu;Sone Kanako;Takada-Watanabe Aki;Tsujimura Kyoko;Koshizaka Masaya;Nagasawa Sayaka;Saitoh Hisako;Ohtaka Manami;Nakanishi Mahito;Tahara Hidetoshi;Shimamoto Akira;Iwama Atsushi;Eto Koji;Yok
成人早老症是一种罕见的常染色体隐性遗传疾病，以青春期后的加速衰老症状为特征。致病基因WRN是RecQ DNA解旋酶家族的成员，主要参与DNA复制、修复和端粒维持。在这里，我们报告了从WS患者中产生iPS细胞，并通过CRISPR/Cas9介导的方法校正WRN基因。这些iPSC细胞系将是解读WS发病机制的宝贵资源。
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 theWRNgene by the CRISPR/Cas9-mediated method. These iPSC lines would be a valuable resource for deciphering the pathogenesis of WS.