Join us in the Fight Against Niemann-Pick Type C Disease
NPC Tissue and Cell Lines
Help Build A Research Resource For Niemann Pick DIsease
The Coriell Institute for Medical Research supports NPC research by making a variety of cell lines and DNA samples available to researchers through the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository. Many of these cell lines have additional information linked to them, including DNA analysis results and clinical information. These samples and their accompanying clinical information are stored at Coriell in Camden, NJ and are distributed to qualified researchers around the world by Coriell through funds supplied by the federal government.
There is now an effort underway to update and expand the collection of Niemann Pick disease samples. There have been quite number of researcher requests for NPD cells, so adding to the collection is an important contribution that families can make. In fact, with 335 requests for NPC1, 66 for NPC2, and 85 for Niemann-Pick disease (types A and B) in the last 5 years, Niemann-Pick is one of the top 10 diseases for which cell lines are requested by researchers. Recently requests for NPC cell lines have increased because cells from individuals with NPC may be instrumental in helping scientists develop treatments for the Ebola virus, which uses the Niemann Pick C1 protein in order to enter the body’s cells and begin replicating. Blood and tissue donations from individuals with Niemann Pick disease are highly valued and needed for a variety of research purposes.
Samples can be contributed from any of the following sources:
1. From the cell culture used to confirm the diagnosis of NPC. This type of sample donation needs to be coordinated immediately after the diagnosis is made because the testing laboratory does not store these cells for any length of time.
2. From a blood sample. Blood can be collected when a patient is having blood drawn for other reasons.
3. From a tissue biopsy or surgical sample. If a biopsy is being done for diagnosis of a problem, or if tissue is being removed for any reason, a portion of that tissue may be able to be donated to Coriell.
All sample donations should be arranged in advance by contacting Tara Schmidlen, the genetic counselor at Coriell working to help expand the NPD cell collection:
Tara J. Schmidlen, MS, CGC
For blood donations, you will receive a collection kit that contains bar-coded blood tubes (ACD-A yellow top tubes for adults/purple top EDTA tubes for children). For tissue biopsy donations, you will receive a collection kit that contains a 15 mL plastic tube containing preservation liquid. Biopsy collection tubes must be kept refrigerated up until the time of sample collection, therefore biopsy kits are often sent only a few days ahead of your biopsy appointment. Blood and tissue collection kits will contain the necessary paperwork for submission to the repository (Informed Consent/Assent Forms, NIGMS Submission Form and the General Clinical Data Elements Form). Coriell also requests that you send copies of relevant medical records, any genetic test results that you have, and/or any genetics clinic visit summary letters as the more clinical information that is available about a sample donor, the more useful the samples are to scientists.
Coriell covers the cost of shipping by including a return shipment FedEx label in the collection kit. Coriell is able to reimburse blood sample donors up to $40 for any fees associated with having a blood sample taken. To seek reimbursement you must send a copy of your bill to Tara. Unfortunately, Coriell cannot cover any costs related to tissue biopsies. It is best to have sample collection done at the same time as clinical samples are being collected whenever possible to avoid getting charged any fees for sample collection.
For more information about the sample donation process, please visit: https://catalog.coriell.org/1/NIGMS/About/Information-for-Patients
The required sample submission forms can also be accessed as PDFs via the links below:
Assent Form (to be completed by cognitively capable children ages 7-17)
The Ara Parseghian Medical Research Foundation is working closely with the University of Maryland Brain and Tissue Bank for Developmental Disorders. This tissue bank will also store and distribute this valuable resource to researchers who are conducting investigations on Niemann-Pick Type C disease. Please visit the website at the University of Maryland Brain and Tissue Bank for Developmental Disorders at: http://www.BTBank.org You may also call Melissa Larkins at 1-800-847-1539.
The University of Maryland Brain and Tissue Bank is associated with the National Institute of Child Health and Development (NICHD). The brain and tissue banks are set up to provide human material for investigators studying children's diseases which alter normal development or maturation of the nervous system. The brain and tissue bank at the University of Maryland School of Medicine.
The principal goal of the University of Maryland Brain and Tissue Bank is to provide well-characterized and high quality tissue to researchers who are investigating the etiology, mechanisms of disease, and potential avenues of treatment into such disorders.
The Ara Parseghian Medical Research Foundation has entered into a collaborative relationship with the Coriell Cell Repository, to house and distribute NP-C cell lines to researchers around the world. Please visit the Coriell website at: http://ccr.coriell.org or call 1-800-752-3805 in the United States or 800-856-757-4848 from other countries. The E-Mail adddress is CCR@coriell.org.
The Coriell Institute for Medical Research is an internationally known not-for-profit, basic biomedical research institution. In addition to conducting its own research in cancer, human genetic variation, mechanisms of cellular differentiation, and other genetic disorders, the Coriell Institute for Medical Research also serves the worldwide scientific community by maintaining the world's largest collection of human cells for research.
The identification of genes associated with Huntington Disease, cystic fibrosis, Alzheimer Disease, Down syndrome and a severe form of manic depression, among many others relied on cells from the collections at Coriell. Taking the understanding of these diseases even further, cell lines such as Niemann-Pick Type C are being used to elucidate therapeutic directions in research.