Genetic Cell Repository

Chromosome 15q11.2-13.1 Duplication Cell Lines

The National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository, Coriell Institute for Medical Research

In the study of human genetic disorders, samples from patients and their families are a critical resource for researchers, however it is often a major hurdle to identify families with specific chromosome abnormalities, like idic(15) and int dup(15). Thus many researchers rely on tissue and cell “banks” for access to samples from patients with a specific diagnosis. These samples are often in the form of a “cell line”, which are derived from a blood sample that has been specifically treated to allow the cells to be grown in culture for extended periods of time. Our lab has established cell lines for most of the samples that we have obtained for our study of chromosome 15q duplications. We would like to submit them to the NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research to make them widely available to other researchers who are interested in working on chromosome 15.

The NIGMS Human Genetic Cell Repository at the Coriell Institute for Medical Research in Camden, New Jersey, holds the world’s largest collection of human cell lines for use in research, which includes over 10,000 cell lines representing more than 500 different genetic disorders. They maintain and distribute thousands of cell lines and DNA samples from individuals with diverse genetic disorders and make them available to researchers around the world for a nominal cost. Their collection is supported by grants from the National Institutes of Health and several private foundations with specific support by the National Institute of General Medical Sciences. To learn more about the cell repositories at Coriell, please see their website: ccr.coriell.org.

Coriell’s repository collects biological samples and relevant clinical information from donors. All personal identifying information is removed upon arrival to the repository. In the catalog, basic information is provided to researchers ordering cell lines, including gender, race, the age of the individual when the sample was obtained, and if other family members are in the repository. However, all of the information is anonymized, meaning that there is no way for the researcher to know who the sample came from.

Families who are participating in our study can contact the NIGMS Human Genetic Cell Repository genetic counselor, Tara Schmidlen, to authorize us to share your cells. Be sure to let her know if you are part of our study, because if we have samples that can be shared, we will send the cells to Coriell so that you do not need to have another sample of blood drawn. If families are not enrolled in our study, but would like to provide a sample for the cell repository, you can also participate in this opportunity to expand access to idic(15) and int dup(15) cell lines by contacting Tara. Families living outside of the United States are also welcome to donate a sample to the repository. All interested families will need to sign the Coriell consent forms in order to have their samples in the repository. These forms are being generated and will be available from Tara Schmidlen.

Tara J. Schmidlen, MS, CGC
Certified Genetic Counselor
NIGMS Human Genetic Cell Repository
Coriell Institute for Medical Research
403 Haddon Avenue
Camden, NJ 08103
tschmidl@coriell.org
P:856-757-4822
F:856-964-0254