The NIGMS Human Genetic Cell Repository Cooperative Agreement (U42) Application

 描述(由申请人提供)：科里尔医学研究所(Coriell)建议维护和扩大NIGMS人类遗传细胞库。NIGMS资料库由美国国家普通医学科学研究所(NIGMS)于1972年在科里尔建立，为生物医学研究中使用的遗传性疾病患者、染色体异常患者、表面上健康的个人和不同地理来源的个人提供了一个易于访问的集中生物样本资源。NIGMS资料库的主要目标是通过建立和维护高质量、无污染、特征良好和临床记录良好的细胞系和DNA资料库，并将这些资源提供给美国和海外的研究人员，来刺激和促进生物医学研究、教学以及人类遗传病的诊断和预防。NIGMS知识库的任务与NIGMS的任务是一致的，NIGMS的任务是“支持增加对生命过程的理解的研究，并为疾病诊断、治疗和预防方面的进展奠定基础”。NIGMS资料库的活动都受到高质量标准的约束，将包括(1)细胞系的收集、建立、表征、维护和分配，(2)细胞系DNA的准备、储存和分配，(3)应客户要求开发和提供特殊服务和生物材料，(4)维护一个全面的数据库和在线目录，以及(5)宣传NIGMS资料库的收藏。NIGMS资料库将维护和分发其在线目录中目前收集的约11 300个细胞系和5 600个DNA样本，以及新获得的资源。NIGMS资料库将通过对某些NIGMS资料库细胞系进行重新编程，在科里尔创建人类诱导多能干细胞(IPSC)系，并将培养、鉴定和分配在科里尔重新编程的IPSC系和外部研究人员提交的IPSC系。

 DESCRIPTION (provided by applicant): Coriell Institute for Medical Research (Coriell) proposes to maintain and expand the NIGMS Human Genetic Cell Repository. The NIGMS Repository, established in 1972 at Coriell by the National Institute of General Medical Sciences (NIGMS), provides a readily accessible, centralized resource for biospecimens from individuals with inherited disorders, chromosomal abnormalities, apparently healthy individuals, and individuals of diverse geographic origins for use in biomedical research. The primary goal of the NIGMS Repository is to stimulate and facilitate biomedical research, teaching, and the diagnosis and prevention of human genetic diseases by establishing and maintaining a repository of high quality, uncontaminated, well characterized, and clinically well-documented cell lines and DNA and making these resources available to investigators throughout the U.S. and abroad. The NIGMS Repository mission is in line with the NIGMS mission, which is "to support research that increases understanding of life processes and lays the foundation for advances in disease diagnosis, treatment and prevention". The NIGMS Repository's activities, all governed by high standards of quality, will include (1) collection, establishment, characterization, maintenance, and distribution of cell lines, (2) preparation, storage and distribution of DNA from cell lines, (3) the development and offering of special services and biomaterials in response to customer requests, (4) maintenance of a comprehensive database and online catalog, and (5) publicizing the NIGMS Repository's collection. The NIGMS Repository will maintain and distribute the current collection of approximately 11,300 cell lines and 5,600 DNA samples in its online catalog, as well as newly acquired resources. The NIGMS Repository will create human induced pluripotent stem cell (iPSC) lines at Coriell by reprogramming certain NIGMS Repository cell lines and will culture, characterize and distribute both iPSC lines reprogrammed at Coriell and those submitted by external investigators.