Research Materials Available to Fanconi Anemia Researchers

National Disease Research Interchange (NDRI)

Fanconi Anemia Antibody Project

Laboratory of Maureen Hoatlin, PhD, at Oregon Health and Science University (OHSU)

Oregon Health and Science University (OHSU) Fanconi Anemia Cell Repository

Coriell Cell Repositories

American Type Culture Collection


I. National Disease Research Interchange:
Biomedical Research Materials for Research into Fanconi Anemia

Background:
To facilitate collection of biomedical research materials for FA research, the Fanconi Anemia Research Fund has entered into a partnership with the National Disease Research Interchange (NDRI). NDRI is a 501(c)3 not-for-profit organization with over 25 years experience in obtaining, storing, and distributing human cells, tissues, and organs to researchers and scientists (www.ndriresource.org). In conjunction with the NIH Office of Rare Diseases, in 2002 NDRI began to develop a program focused on the unmet needs of the rare disease research community for human organs and tissues. NDRI receives funding for its Rare Disease Program from the National Institutes of Health and the Office of Rare Diseases.

Available Research Materials:
Biomedical samples of Fanconi anemia are available to researchers. Given the rarity of FA, the supply of some biomedical research materials is occasionally limited. Samples are provided only to those researchers who are specifically studying FA. In general, NDRI places around 20,000 biospecimens annually with researchers in academic and government laboratories, as well as those in biomedical and pharmaceutical industries. To that end, the organization works with organ procurement organizations, eye banks, tissue banks, and major medical centers in the United States. NDRI has also developed unique programs to serve researchers studying rare diseases, such as Fanconi anemia. Importantly, NDRI has developed mechanisms to aseptically obtain tissues with a very short death to preservation interval, making them ideal for cell culture, genomic, and proteomic research. NDRI also serves the cancer research community with tumor and normal adjacent tissue specimens preserved at 4°C, frozen, snap-frozen, or formalin-fixed/paraffin embedded.

NDRI will strive to meet your exact needs for FA research. Please visit www.ndriresource.org to learn how NDRI can be a valuable resource for your research. To receive an application, contact a Rare Disease Coordinator at raredisease@ndriresource.org or by phone at 1-800-222-6374. The application is also available on NDRI’s website under the Quick Links section.

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II. Fanconi Anemia Antibody Project:
Antisera Now Available against Fanconi Complementation Group Proteins

Background:
To facilitate research into Fanconi anemia, the Fund has sponsored the development of affinity-purified rabbit polyclonal antisera against the Fanconi complementation group proteins. Ray Monnat, Jr, MD, University of Washington School of Medicine and a member of the Fund’s Scientific Advisory Board, spearheads this effort.

These rabbit antisera were developed with a commercial partner, Open Biosystems in Huntsville Alabama, using peptide epitopes, and were validated by a combination of peptide ELISA assays and Western blot analyses with and without peptide blocking using cell lysates from different FANC protein-positive and negative human cell lines. All positive antisera were then affinity-purified and again titered by ELISA assay to determine sensitivity of detection. Antisera against most of these proteins and USP1 are now available for distribution to all qualified investigators to further our understanding of Fanconi anemia biology.

IMPORTANT: An essential part of this project is the use and sharing of experience with these antisera with the Fanconi community. Thus, it is essential that all end users report their experience on the best protocols and uses of specific antisera for immunofluorescence, immunoprecipitation, Western blot or other analysis to help all users of these antisera. This feedback can be entered on the Antibody website, where it will be archived and made available to all users. We will not honor additional requests for reagents from users who do not provide feedback on their experience using antisera.

Availability and Distribution:
The Fanconi Anemia Research Fund has contracted with Oregon Health & Science University through the laboratory of Markus Grompe, MD, Department of Medical and Molecular Genetics, to manage the FA Antibody Project in conjunction with the FA Cell Repository already housed at OHSU. Laura Marquez is in charge of this project.

Rabbit polyclonal affinity-purified antisera prepared against either peptide epitopes or fusion protein antigens are available now to most of the Fanconi complementation group proteins and for the deubiquitinating enzyme USP1. The antisera listed are available to all qualified non-commercial Fanconi anemia investigators via the FA Antibody Project website at http://www.ohsu.edu/fa. There is no charge for the antisera. Requesting investigators must complete a Use Agreement and Materials Transfer Form and provide a valid shipping account number to cover the cost of shipping. Commercial users may arrange to purchase the antisera via a distribution agreement with Open Biosystems.

As noted, an important aspect of this open source/end user project is to share use information. This is an essential aspect of this effort, and a requirement for receiving antisera.

Direct general inquiries regarding FANC antibodies to:
Ray Monnat, MD
Departments of Pathology and of Genome Sciences
University of Washington
Telephone: 206-616-7392
Fax: 206-543-3967
E-mail: monnat@u.washington.edu

Direct antibody distribution questions to:
Laura Marquez
Oregon Stem Cell Center
Oregon Health & Science University
Telephone: 503-494-6889
Fax: 503-494-6886
Email: marquezl@ohsu.edu

 

III. Laboratory of Maureen Hoatlin, PhD, at Oregon Health and Science University (OHSU):

Contact:
Maureen Hoatlin, PhD
Division of Molecular Medicine and Molecular and Medical Genetics
Oregon Health and Science University
Portland, OR
Email: hoatlinm@ohsu.edu
Telephone: 503-494-1123;
fax: 503-494-7368
Website: Hoatlin Reagent Requests

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IV. Oregon Health and Science University (OHSU) Fanconi Anemia Cell Repository:

The Oregon Health and Science University (OHSU) Fanconi Anemia Cell Repository has immortalized FA fibroblast cell lines from four FA complementation groups:

+FA-A:          PD220

+FA-C:          PD331

+FA-D2:        PD20 and PD733

+FA-G:          PD352

These cell lines are available to all FA researchers. The Repository also has FA-D2 PD20 immortalized fibroblast cells that are retrovirally corrected and is in the process of establishing retrovirally corrected immortalized fibroblast cell lines from FA-A, FA-C, and FA-G complementation groups. 

The Repository has limited supplies of primary fibroblast cell lines with their retrovirally corrected counterparts which can be given out by special request. So far, 72 of the primary fibroblast cell lines in the repository have been assigned to FA-A, 12 to FA-C, 2 to FA-D2, and 10 to FA-G. 

 
Knock Out Mouse Embryonic Fibroblasts (MEFs):

The Repository can supply researchers with MEFs from FANCA (-/-) and FANCC (-/-) knock out mice and, also, the double knock out FANCA/C (-/-).  Additionally, the Repository has wildtype (+/+) MEFs. 
 
To request shipment of these research materials or for more information regarding the OHSU FA Cell Repository, contact:

Laura Marquez
Oregon Stem Cell Center
Oregon Health and Science University
Telephone 503-494-6889
Fax 503-494-6886
E-mail: marquezl@ohsu.edu

 

V. Coriell Cell Repositories:

http://ccr.coriell.org

 

VI. American Type Culture Collection:

http://www.atcc.org

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