Scientific and Administrative Management Core

NIGMS人类遗传细胞库 U42应用 FOA编号：RFA-GM-19-002 项目摘要/摘要 科里尔医学研究所(Coriell)建议维持和扩大NIGMS 人类遗传细胞库(HGCR)NIGMS HGCR于1972年在科里尔由 国家普通医学科学研究所(NIGMS)，提供了一个容易访问的， 来自遗传性疾病个体的生物样本的集中资源，染色体 异常，表面上健康的个人，以及不同地理来源的个人 用于生物医学研究。NIGMS HGCR的主要目标是刺激和促进 生物医学研究、教学、人类遗传病的诊断和预防 建立和维护一个高质量、无污染、特色良好、 临床证明良好的细胞系和DNA，并将这些资源提供给 美国和海外的调查人员。NIGMS HGCR任务符合 NIGMS的使命是“支持研究，增加对生命过程的理解 并为疾病诊断、治疗和预防方面的进展奠定了基础。这个 NIGMS HGCR的活动都遵循高标准的质量，将包括(1)收集， 细胞系的建立、鉴定、维护和分布，(2)制备， 细胞系DNA的储存和分配，(3)特殊DNA的开发和提供 应客户要求提供遗传服务和生物材料，(4)维护 全面的数据库和在线目录，以及(5)宣传NIGMS HGCR 收藏。NIGMS HGCR将维护、增长和分发当前的 在ITS中，大约有11,800个独特的细胞系，6,400个DNA样本和54个人类IPSC系 在线目录，以及新获得的资源。NIGMS HGCR将继续创建 通过重新编程某些NIGMS在科里尔建立的人诱导多能干细胞(IPSC)系 HGCR细胞株。此外，Coriell致力于整合最先进的技术 并将继续提供广泛的尖端服务，以增强 HGCR收集对基因研究界的效用。

The NIGMS Human Genetic Cell Repository U42 Application FOA No.: RFA-GM-19-002 Project Summary/Abstract Coriell Institute for Medical Research (Coriell) proposes to maintain and expand the NIGMS Human Genetic Cell Repository (HGCR). The NIGMS HGCR, 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 HGCR 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 HGCR 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 HGCR’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 genetic services and biomaterials in response to customer requests, (4) maintenance of a comprehensive database and online catalog, and (5) publicizing the NIGMS HGCR’s collections. The NIGMS HGCR will maintain, grow and distribute the current collection of approximately 11,800 unique cell lines, 6,400 DNA samples, and 54 human iPSC lines in its online catalog, as well as newly acquired resources. The NIGMS HGCR will continue to create human induced pluripotent stem cell (iPSC) lines at Coriell by reprogramming certain NIGMS HGCR cell lines. Additionally, Coriell is committed to integrating state-of-the-art technologies into its activities and will continue to offer a wide range of cutting edge services that enhance the utility of the HGCR collection to the genetic research community.