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.

The NIGMS Human Genetic Cell Repository U42 Application FOA No.: RFA-GM-15-005 Project Narrative The NIGMS Human Genetic Cell Repository stimulates and facilitates biomedical research, teaching, and the diagnosis and prevention of human genetic diseases by providing well- characterized and high-quality cell lines and DNA for use in biomedical research. The NIGMS Repository, which currently contains more than 11,300 cell lines and 5,600 DNA samples in its online catalog, focuses on acquiring biological samples from individuals with inherited diseases, apparently healthy individuals, and individuals of diverse geographic origins. The NIGMS Repository also provides stem cell lines, including many that carry disease gene mutations, which can be used for purposes ranging from disease modelling to drug discovery.