INTERNATIONAL REGISTRY OF WERNER SYNDROME/CELL BANK

描述(申请人的描述)沃纳国际注册处 在过去的10年里，华盛顿大学一直存在着综合症，其原因是： 1.确定世界各地的其他家系并对其进行基因分型( 注册中心是美国唯一一个提供遗传信息的组织 WS的确认)；2.建立和超低温保存细胞材料 包括EB病毒转化的外周血B淋巴细胞 LCLS、原代皮肤成纤维细胞培养和永生化皮肤 来自患病患者和临床未患病同胞的成纤维细胞培养 3.提供新鲜的外周血样，培养的细胞 材料，WRN cDNA，抗WRN抗体致密歇根大学同事 华盛顿和其他地方；以及4.维持和扩大华盛顿大学 华盛顿国际沃纳综合征数据库网上注册 作为受安全保护的协作局域网 调查人员并作为一个独立的万维网网站提供公共信息 供临床医生和寻求有关沃纳的信息的普通观众使用 综合症。该提案将通过以下方式继续履行这些职能 增强：1.建立hTERT不朽的WS和 控制成纤维细胞；2.其他RecQ解旋酶基因和 其他候选基因在WS患者和不典型WS病例中没有明显的 WRN突变；3.作为华盛顿大学系的一部分 病理新开发的网络计算机系统我们建议转移 注册处的本地安全内联网功能(临床和实验室数据) 和公共网站连接到一个具有增强的安全性、自动化的新系统 备份和自动病毒筛查；4.扩大分析和 更新登记系统内所有家系的临床资料；及 尽最大努力获得大量冷冻保存的皮肤移植组织和 来自尸检的WS受试者的其他组织提供额外的初级 为这里的研究人员提供的培养和生化分析材料 华盛顿大学和其他机构。

DESCRIPTION (Applicant's Description) The International Registry of Werner Syndrome has existed at the University of Washington for the past 10 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 lymphocyte cell lines (LCLs), Primary skin fibroblast cultures, and immortalized skin fibroblast cultures from affected patients and clinically unaffected siblings 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 Internet as both a security protected Local Area Network for collaborating investigators and as a separate World Wide Web 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 of hTERT immortalized WS and control fibroblasts; 2. sequence analyses of other RecQ helicase genes and other candidate genes in WS patients and in atypical WS cases with no apparent WRN mutations; 3. as a part of the University of Washington Department of Pathology's newly developed net worked computer system we propose to transfer the Registry's local secure intranet functions (clinical and laboratory data) and the public website to a new system with enhanced security, automated backup, and automated viral screens; 4. an expanded effort to analyze and update the clinical data from all pedigrees within the registry; 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 at other institutions.