Database and Web-based Catalog Core

NIGMS人类遗传细胞库 U42应用 FOA编号：RFA-GM-15-005 项目总结/摘要 Coriell医学研究所（Coriell）建议维持和扩大NIGMS 人类基因细胞库。1972年，NIGMS在Coriell成立， 国家普通医学科学研究所（NIGMS），提供了一个方便， 遗传性疾病个体染色体生物标本集中资源 异常，明显健康的个体，以及不同地理来源的个体， 用于生物医学研究。NIGMS知识库的主要目标是促进和 促进生物医学研究、教学以及人类遗传病的诊断和预防 通过建立和维护一个高质量的，未受污染的， 特征化的，临床上有充分记录的细胞系和DNA， 提供给美国和国外的调查人员。NIGMS储存库使命是在 与NIGMS的使命一致，即“支持增加对生命的理解的研究 为疾病诊断、治疗和治疗的进步奠定基础， 预防”。NIGMS知识库的所有活动都遵循高质量标准， 包括（1）细胞收集、建立、表征、维持和分布 细胞系，（2）细胞系DNA的制备、储存和分布，（3）细胞系的发育和 根据客户要求提供特殊服务和生物材料，（4）维护 （5）宣传NIGMS知识库的 收藏. NIGMS知识库将维护和分发当前收集的 其在线目录中约有11，300个细胞系和5，600个DNA样本，以及新的 获得的资源。NIGMS Repository将创建人类诱导多能干细胞 （iPSC）系，并将培养， 表征和分发在Coriell重新编程的iPSC系和由 外部调查员。

The NIGMS Human Genetic Cell Repository U42 Application FOA No.: RFA-GM-15-005 Project Summary/Abstract 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.