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.

The NIGMS Human Genetic Cell Repository U42 Application FOA No.: RFA-GM-19-002 Project Narrative The NIGMS Human Genetic Cell Repository (HGCR) stimulates and facilitates biomedical research, teaching, and the diagnosis and prevention of human genetic diseases by providing well-characterized and high-quality cell lines, DNA, and iPSCs for use in biomedical research. The NIGMS HGCR currently contains approximately 11,800 unique cell lines, 6,400 DNA samples, and 54 human iPSC lines representing a variety of disease states, chromosomal abnormalities, apparently healthy individuals and many distinct human populations. The NIGMS HGCR also develops and offers a wide range of cutting-edge special genetic services and biomaterials in response to the research community’s needs.