Specific tissues, biopsies and primary fibroblast cultures from CMD patients are available at three repositories:
Please type in “congenital” in the disease filter, not congenital muscular dystrophy.
Wellstone Center, University of Iowa, Director: Steven Moore, MD, PhD
The Repository currently contains skeletal muscle biopsies from approximately 3000 neuromuscular disease patients and fibroblast cultures from approximately 10 muscular dystrophy patients. De-identified information about individual biopsies or cultures in the Repository can be found in a searchable database by clicking on the Database link on website above. Research scientists may request tissue from specific biopsies or cell cultures from specific patients by completing the appropriate forms. In order to accrue new biopsies or cell cultures in the Repository, patient consent forms must be completed.
By creating a well characterized, central source of samples from individuals with CMDs, Cure CMD and the Coriell Institute are working together to facilitate CMD research and invest in the future of CMD therapies. The CMD BioBank is housed at the National Institute of General Medical Sciences (NIGMS) Human Genetic Cell Repository at the Coriell Institute, Camdell, New Jersey. Resources are: fiboblast cell lines, myoD converted fibroblast cell lines, iPS cells, lymphoid cell lines. Samples in the NIGMS repository have been utilized in over 5,000 scientific publications by researchers in more than 50 countries.
Cure CMD supports the CMD BioBank by identifying and facilitating sample transfers from existing collections at other institutions. To provide scientists with a de-identified data set, CMD BioBank samples will be linked to existing profiles in the CMD International Registry through a code number. The CMDIR staff provides: maximal motor function achieved, breathing status, concomitant medication use and CMD subtype verification with gene mutation if available. Having detailed information regarding clinical severity assists scientists using the CMD samples in understanding therapy response.
Contact: Tara Schmidlen, MS, CGC at +1-856-757-4822 or firstname.lastname@example.org