INTERNATIONAL REGISTRY OF WERNER SYNDROME/CELL BANK

描述（申请人的描述）Werner国际注册处 综合征在华盛顿大学已经存在了10年，以： 1.确定和基因型来自世界各地的其他谱系（ Registry是美国唯一一家提供基因治疗的组织。 确认WS）; 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 原代皮肤成纤维细胞培养物和永生化皮肤 从患病患者和临床上未受影响的同胞中培养成纤维细胞 从这些谱系; 3.提供新鲜外周血样本、培养细胞 材料，WRN cDNA，抗WRN抗体的同事在大学 华盛顿和其他地方;和4.维持和扩大大学的 华盛顿国际维尔纳综合征登记数据库 作为安全保护的局域网， 调查人员和作为一个单独的万维网网站， 对于临床医生和寻求关于沃纳信息的普通观众来说， 综合征 这项建议将继续这些职能， 增强功能：1. hTERT永生化WS的选择的建立， 对照成纤维细胞; 2.其他RecQ解旋酶基因的序列分析， 其他候选基因在WS患者和非典型WS病例中没有明显的 WRN突变; 3.作为华盛顿大学 病理学新开发的网络计算机系统，我们建议转让 登记处的本地安全内联网功能（临床和实验室数据） 和公共网站，以一个新的系统，加强安全，自动化 备份和自动病毒筛查; 4.一个扩大的努力，分析和 更新注册表内所有家系的临床数据;以及5.到 努力获得大量冷冻保存的皮肤外植体， 尸检WS受试者的其他组织，以提供额外的主要 培养和生化分析材料的研究人员在这里， 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.