Frequently Asked Questions

Overview of the NHGRI Sample Repository for Human Genetic Research

  1. What is the NHGRI Sample Repository for Human Genetic Research? 
    The NHGRI Sample Repository for Human Genetic Research (NHGRI Repository) offers DNA samples and cell lines from twenty-seven populations, including the samples used for the International HapMap Project and the 1000 Genomes Project (except for CEPH samples).

  2. What sample types are available?
    The NHGRI Repository offers lymphoblast cell cultures (LCLs) and DNA samples extracted from these cultures. All DNA samples can be purchased individually, but there are also pre-constructed DNA plates and panels for some International HapMap Project and 1000 Genomes Project populations (for more details: DNA Plates and Panels).

  3. Who is eligible to receive samples?
    Cell cultures and DNA samples are distributed to qualified professionals who are associated with recognized research, medical, educational, or industrial organizations engaged in health-related research or health delivery.

  4. Where can I find the data associated with NHGRI Repository samples?
    The NHGRI Repository at Coriell is the sample repository for the International HapMap Project and the 1000 Genomes Project. We provide cell lines and DNA, but do not house the data for these projects. Data associated with these samples can be found at the following project websites:

  5. How can I map specific SNP variants to Coriell samples?
    The 1000 Genomes Browser http://www.ncbi.nlm.nih.gov/variation/tools/1000genomes/ hosted by NCBI provides access to variant calls, genotype calls, and supporting sequence read alignments produced by the 1000 Genomes project. With the 1000 Genomes Browser, users can access genotype data from either the Phase 3 or Phase 1 call sets. The browser displays the Phase 3 data by default, but users can access Phase 1 data by clicking on the banner at the top of the browser. Information about Coriell samples can be found under the column heading “Populations / Samples”. To search for specific variants, users can use the “Search” widget located below the “Ideogram View” widget on the left. The Search widget will accept a location directive, such as chr1:1,500,000-2,000,000 or a search term (such as 'PTEN' or 'rs13432'). The Genotype table provides access to individual level genotypes and population allele frequencies. Rows display information about populations and individuals, while columns display information about variants. To see individual level genotypes, click on the arrow next to the population abbreviation and it will open to display the genotypes of individuals from that population. The reference allele is always displayed first. The most frequent allele is always bolded.

Sample Information and Quality Control

  1. How are Lymphoblast Cell Lines (LCLs) cultured?
    Information about LCLs can be found at the following link: Lymphoblast Culture FAQ

  2. How is DNA extracted?
    Information about DNA extraction and quantitation can be found at the following link: DNA Quantitation Info for Shipped DNA

  3. What Quality Control (QC) checks are performed on Coriell cell cultures and DNA?
    Coriell offers high-quality cell cultures and DNA. To review a list of QC procedures for each sample, please refer to the following link: Quality Control

Sample Use and Human Subjects

  1. What kind of research may be performed on samples obtained from the NHGRI Repository? 
    NHGRI Repository samples were contributed with consent to broad data release and to their use in many future studies, including for extensive genotyping and sequencing, gene expression and proteomics studies, and all other types of genetic variation research. The samples include no identifying or phenotypic information, and are high-quality resources for the study of genetic variation in a range of human populations.

  2. May samples from the NHGRI Repository be used for commercial purposes? 
    Samples obtained from the NHGRI Repository, and material derived from the samples, may not be used for commercial purposes, although knowledge gained from their use may be used. Please see the terms of use as outlined in the NHGRI Repository Assurance Form.

  3. Can leftover samples be shared with other investigators? 
    The NHGRI Repository has strict guidelines on secondary distribution and shared use of samples. It is not acceptable for investigators to give a portion of the DNA sample or cell culture to a colleague who is working on another project. In this case, secondary distribution is prohibited because this would make it difficult for the NHGRI Repository to monitor all the uses of the sample so that they can convey this information to the Community Advisory Group in the donor community as required by the informed consent form under which the sample was collected. Secondary distribution in this situation would also make it impossible for the Coriell Cell Repository Review Board to ensure that use of the sample by the original requester's colleague is consistent with the NHGRI Repository Assurance Form and NHGRI Repository Statement of Research Intent. The colleague must obtain the material directly from the NHGRI Repository. Please refer to the following link for more information: Secondary Distribution and Shared Use of Cell Cultures and DNA Samples from the NHGRI Collection

  4. Can leftover samples be used for an entirely different project? 
    Leftover samples can be used for a different project by the investigator who purchased the sample only after an updated Statement of Research Intent has been submitted to and approved by the NHGRI Repository at Coriell (please send requests to nhgri@coriell.org ). Investigators must still adhere to the terms of the Assurance Form under which the samples were purchased. The NHGRI Repository must ensure the protection of human subjects and the quality of the samples. Please refer to the following link for more information: Secondary Distribution and Shared Use of Cell Cultures and DNA Samples from the NHGRI Collection

  5. Is using biospecimens obtained from the NHGRI Repository considered human subjects research?
    The DHHS Office for Human Research Protections (OHRP) Guidance on Research Involving Coded Private Information or Biological Specimens (October 16, 2008) clarifies when research on human specimens is considered to be human subjects research. According to this Guidance, biospecimens obtained for the NHGRI Repository are not considered to be human subjects because conducting research with the samples does not involve an intervention or interaction with the individual and the samples do not contain identifiable private information. The Repository has policies in place that prohibit the release of any information that would allow investigators to identify the individual from whom the cell culture or DNA sample was derived.

Ordering and Pricing Information

  1. How do I search for samples using the Coriell catalog?
    For more information on how to perform a generic catalog search to find a sample of interest, please click on the following link: Search Help. Using the “Search Bar” either on the main catalog page, or in the top right corner of any catalog page, you can search for any term of interest or any Repository ID (if known). Subsequently, you can browse for samples of interest within the NHGRI Repository Landing page by using the menu options on the left side of the page.

  2. How do I order samples from the NHGRI Repository?
    All orders for NHGRI Repository samples must be submitted using the online catalog. Customers must register online, and after their registration has been approved, they can add items to their shopping cart from the catalog and checkout. Click the following link for detailed Ordering Instructions.

  3. What documents are required to order samples?
    There are two requirements for ordering biomaterials from the NHGRI Repository at Coriell to ensure compliance with the Office for Human Research Protections (OHRP), Department of Health and Human Services (DHHS) regulations for the protection of human subjects (45 CFR Part 46):

    • A Statement of Research Intent with a description of the research to be done with the cell cultures or DNA samples must be provided to the NHGRI Repository. In the Statement of Research Intent, there must be a declaration if there is to be SECONDARY DISTRIBUTION OR SHARED USE of DNA or Cell Cultures. This research intent is submitted electronically via the online catalog at the time the order is placed. For an example of the information that will be asked at the time of order, please refer to the following document: Statement of Research Intent

    • An Assurance Form detailing the terms and conditions of sale must be signed by the principal investigator and the institutional official who can make legal commitments on behalf of the institution (see Assurance Form Signatory Guidelines.) The signed Assurance Form must be submitted by email to customerservice@coriell.org before an order can be reviewed and approved. NHGRI Repository Assurance Form

  4. How much do samples from the NHGRI Repository cost?
    Pricing information for all cell cultures, individual DNA aliquots, and DNA panels can be found at the following link: Pricing Information

  5. Are sample discounts available?
    The NHGRI Repository recognizes that the value of these samples can be realized only when the cost of access is reasonable. They are committed to ensuring samples are distributed at a low and reasonable cost. The NHGRI Repository offers discounts in the following circumstances (see Pricing Information for more details):

    • When an order for a large number of cell cultures is placed at one time, the fee for each of the first 250 cultures is $85 and the fee for each additional culture is $25.

    • In order to facilitate the use of these samples by scientists from developing countries, the National Human Genome Research Institute/National Institutes of Health (NHGRI/NIH) will allow scientists from countries listed in bands 1 and 2 of the World Health Organization's Health InterNetwork Access to Research Initiative (HINARI) to purchase DNA samples and cell lines at a reduced rate of 25% (a 75% discount) of the catalog price.

How to Cite Repository in Publications

  1. How should investigators cite the samples in publications?
    The NHGRI Sample Repository for Human Genetic Research number(s) of the cell line(s) or the DNA sample(s) must be cited as follows in publications or presentations that are based on the use of these materials:
    "The following cell lines/DNA samples were obtained from the NHGRI Sample Repository for Human Genetic Research at the Coriell Institute for Medical Research: [list Repository ID numbers here]. "

  2. How should investigators cite the populations in publications?
    It is important to use care in labeling the populations when publishing or presenting the findings of studies that used the samples. Please adhere to the guidelines listed at the following link: Guidelines When Referring to Populations.

  3. Why do I have to report publications?
    Please refer to the following link for more information: Information for Investigators. Donors of the NHGRI Repository samples understand that the full value of the resources developed with their samples can be realized only if the samples remain widely available for research that builds on these resources. Some research with these samples, however, may carry the potential for group stigmatization or other ethical concerns.

    Donors and members of the communities participating in the HapMap and 1000 Genomes Projects are very interested in staying informed about the uses of their samples. In recognition of the importance of keeping the donor communities apprised of how their samples are being used, Coriell sends each donor community a quarterly report that lists the investigators who have requested their samples during that quarter and the nature of the research. The communities are also informed when major papers result from research with their samples.

    It is the policy of the NHGRI Repository that an entire donor community, through its CAG, could decide (after careful discussion) to withdraw its samples from the Repository, if it were determined that the community's samples were being used in a manner inconsistent with the wishes of most of the members of that community. Although this would be expected to occur only rarely and after extensive discussions, it might occur based on a use of the samples that the community found unacceptable or stigmatizing. According communities a right to withdraw their samples in this manner is consistent with contemporary standards of research ethics for genetic variation research that involves identified populations (See "Integrating ethics and science in the International HapMap Project." (2004) Nat Rev Genet. 5:467-75. PMID: 15153999).

    Investigators who use these samples are asked to be sensitive to the possible implications of their research for the sample donors and their communities and populations. Investigators should describe their study results with care and attention to the potential broader implications of their research. Investigators should adhere to the Guidelines for Referring to Populations in Publications and Presentations .

    Investigators should notify the NHGRI Repository (nhgri@coriell.org) of any publications resulting from the use of the samples; an annual reminder will be sent out requesting this information. These measures will help to protect not only the donor communities but also the sample collections and the integrity and long-term viability of the genetic variation research enterprise itself.

  4. Why do I have to fill out a survey?
    The National Human Genome Research Institute (NHGRI) requires that customers who purchase samples from the NHGRI Repository fill out a customer survey every 2 years. The information collected from the survey is used to better serve the scientific and sample donor communities.