The NIGMS Human Genetic Cell Repository encourages researchers and clinicians to submit blood samples or biopsies from individuals with inherited disorders and chromosomal abnormalities and from their family members. However, potential submitters should contact the Repository staff before sending any material. Final acceptance of a specimen into the collection requires the approval of the Working Group of the Human Genetic Cell Repository, which reviews all submissions to determine whether the clinical documentation is adequate and whether the resulting cell line and DNA sample will be of value to the scientific community.
Blood specimens should be collected in duplicate tubes (approximately 8 ml each) in acid citrate dextrose solution A (ACD) to prevent clotting (yellow-topped tube). Biopsy specimens should be placed in a T25 tissue culture flask or screw-top vial with culture medium containing 100 units/ml of penicillin and 100 micrograms/ml of streptomycin. The top or cap of the flask should be taped very securely to prevent leakage. Each sample should be clearly labeled with the date and an identifying number or ID. Cells should be packaged in compliance with IATA Packing Instructions 650.
The Repository prefers blood samples and biopsies because they can be processed and stored at lower passage. Established cell cultures will also be accepted, however, when a biopsy or blood specimen cannot be obtained from the patient. Early-passage cultures may be submitted in a culture flask (preferably T25) filled to the top with culture medium and secured for shipping as described above. Specimens should be packed in a container that will not be broken in transit. The outside of the package should be marked with a warning to keep it at room temperature and not to allow it to be refrigerated, frozen, or overheated.
Mail submission prepaid via overnight delivery service to:
In order to process a submission for inclusion in the Repository, clinical and laboratory documentation of the diagnosis must be provided on a submission form and/or Clinical Data Elements form. Please go here for a list of all current forms. Submitters are requested to complete all applicable blanks on the submission form and provide a family pedigree, if available. If a chromosomally aberrant specimen is submitted, please provide the most up-to-date ISCN (Karyotype and/or microarray).
The submitter of a specimen that is accepted for inclusion in the NIGMS Repository online catalog may receive without charge a single “back-to-submitter” sample of the cell line/DNA derived from this submission or a single sample of any other cell line/DNA sample in the NIGMS Repository. (Please note that induced pluripotent stem cell (iPSC) lines cannot be shipped as back-to-submitter samples unless you have submitted an iPSC line to the NIGMS Repository.) Shipping charges still apply. Please contact the staff at nigms@coriell.org for more information about this policy.
Human Subjects Requirements
Sample submissions to the Repository must be approved by the Institutional Review Board (IRB) at the submitter's institution. The submitter must send an unsigned copy of the IRB-approved consent form utilized to obtain the specimen. To assist submitters in writing a consent form, the Repository has developed a model informed consent form (see below) that includes all the elements that are required by the Office for Human Research Protection (OHRP) and the IRB of the Coriell Institute for Medical Research. The submitter's local IRB may require that modifications be made. To provide guidelines for local IRBs, the Office for Human Research Protections has issued GUIDANCE ON PROTECTION FOR HUMAN SUBJECTS.
Additionally, to aid in educating potential donors, a brochure is available below. A copy of this brochure may also be requested via nigms@coriell.org.
The Human Genetic Cell Repository will not accept biopsies or cell cultures obtained from a live fetus, defined by the presence of pulse, circulation, or other vital signs.
Submitters must comply with the Privacy Rule (45 CFR parts 160 and 164) of the Health Insurance Portability and Accountability Act (HIPAA) of 1996 if they are 'covered entities' or are workforce members of a covered entity, as defined in the Rule. Generally, a covered entity is a health plan, a health care clearinghouse, or a health care provider that transmits health information in electronic form in connection with certain defined HIPAA transactions. For example, a researcher is a covered entity if he/she also provides health care and engages in covered electronic transactions or if the researcher is an employee of a covered entity (such as a covered hospital).
In general, the Privacy Rule requires that covered entities that plan to use or disclose an individual's health information for research purposes obtain an individual's signed permission (Authorization). Submission of samples to a repository is one such research purpose. However, the Privacy Rule does not apply if the health information is de-identified. Health information can be de-identified by 1) removing information, such as name, date, and medical record number, that could be used to identify the donor of the sample, as long as the remaining information alone or in combination with other reasonably available information could not be used to identify the subject ; or 2) having a qualified statistician document that the information is de-identified.
For Frequently Asked Questions pertaining to the Repository, see the FAQ.
This project has obtained a Certificate of Confidentiality from the Federal government to help researchers maintain the privacy of study subjects and their families. This Certificate means that the researchers/submitters cannot be forced to reveal personally identifiable information to persons who are not connected with the study, including courts, without the subject's consent. It does not, however, prevent researchers/submitters from making voluntary disclosure of matters such as threatened harm to oneself or others. However, if a researcher/submitter intends to make such voluntary disclosures, the consent form should clearly indicate this.
Each submitter/site should inform subjects about the Certificate of Confidentiality by including language such as is set out below in the consent form, or other notification to subjects who have already been enrolled. In addition, any researcher with whom study data is shared should be informed of the Certificate of Confidentiality and should agree to use the vested authority to protect the identity of research subjects.
The Repository will institute procedures to insure that it will carry out these responsibilities and that researchers who receive materials are informed of these responsibilities and agree to meet them.
The Program Officer, Dr. Amanda Melillo, should be promptly notified of any subpoena or other involuntary request for study data, so that appropriate use of the Certificate of Confidentiality can be made.
Instructions last updated: December 10, 2015
