International Registry of Werner Syndrome

描述(由申请人提供)：华盛顿大学沃纳综合征国际登记处已经存在了15年，目的是：1.确定来自世界各地的额外家系并进行基因分型(登记处是美国唯一提供WS基因确认的组织)；2.建立和冷冻保存细胞材料，包括EB病毒转化的外周血B淋巴细胞系(LCL)、原代皮肤成纤维细胞培养和来自受影响患者和来自这些家系的其他家庭成员的永生化皮肤成纤维细胞培养；3.向华盛顿大学和其他地方的同事提供新鲜的外周血液样本、培养的细胞材料、WRN cDNA、抗WRN抗体；以及4.在安全的网络服务器和单独的WorldWeb站点上维护和扩展华盛顿大学沃纳综合征国际登记处的参与者信息数据库，为临床医生和寻求有关沃纳综合征信息的普通受众提供公共信息。这项建议将通过以下改进继续这些功能：1.建立一个选择可逆hTERT永生化WS和对照成纤维细胞；2.对Werner综合征患者和没有明显WRN或LMNA突变的非典型Werner综合征患者的候选基因进行序列分析；3.作为华盛顿大学病理学系新开发的联网计算机系统的一部分，我们建议将注册中心的本地安全内联网功能(临床和实验室数据)和公共网站转移到一个新系统，该系统具有增强的安全性、自动备份和自动病毒筛查；5.努力从尸检的WS受试者身上获得大量冷冻保存的皮肤外植体和其他组织，为华盛顿大学和其他研究所的研究人员提供额外的原代培养和生化分析材料。

DESCRIPTION (provided by applicant): The International Registry of Werner Syndrome has existed at the University of Washington for the past 15 years to: 1. ascertain and genotype additional pedigrees from around the world (The Registry is the sole organization in the U.S. that provides genetic confirmation of the WS); 2. establish and cryopreserve cell materials including Epstein-Barr virally transformed peripheral blood B lymphocytes cell lines (LCL), primary skin fibroblast cultures and immortalized skin fibroblast cultures from affected patients and other family members from these pedigrees; 3. provide fresh peripheral blood samples, cultured cell materials, WRN cDNA, anti-WRN antibodies to colleagues at the University of Washington and elsewhere; and 4. maintain and expand the University of Washington International Registry of Werner Syndrome Database on the participant information on a secure web server and a separate WorldWeb site with public information for clinicians and for a general audience seeking information regarding Werner syndrome. This proposal would continue these functions with the following enhancements: 1. the establishment of a selection reversible hTERT immortalized WS and control fibroblasts; 2. sequence analysis of candidate genes in Werner syndrome patients and atypical Werner syndrome cases with no apparent WRN or LMNA mutations; 3. as a part of the University of Washington Department of Pathology's newly developed networked computer system we proposed transfer of the Registry's local secure intranet function (clinical and laboratory data) and the public website to a new system with enhanced security, automated backup, and automated viral screens; and 5. to make a major effort to obtain large numbers of cryopreserved skin explants and other tissues from autopsied WS subjects to provide additional primary cultures and biochemical assayable materials for investigators here at the University of Washington and other institutes.