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FSHD Muscle Cell Distribution

FSHD and familial control primary skeletal muscle cell strains and immortalized clonal cell lines are available for distribution from the NIH UMass Chan Senator Paul D. Wellstone Muscular Dystrophy Cooperative Research Center for FSHD Research.

Primary cell strains

Primary cells from multiple family cohorts are now available to the research community. Each cohort includes cells isolated from the biceps and deltoid muscles of at least one FSHD patient with a confirmed 4qA contraction, and one familial control subject without a contraction. Clinical and diagnostic information (age, gender, muscle strength, EcoRI/BlnI fragment length, etc.) will be provided. 

Primary cells have been sorted for the CD56 cell surface marker to enrich for myogenic cells. The majority of cell strains have undergone no more than ~20 population doublings (PD) prior to freezing, and under our culture conditions cells can typically be expanded to at least a total of 35 PD (i.e. ~15 additional PD). Cells have been frozen in small aliquots in order to distribute as widely as possible.

Immortalized cell clones

Immortalized cell clones from four cohorts are also available. Primary cells were immortalized by lentiviral transfection of CDK4 and hTERT and selected CD56+ cell clones were expanded. These clones have been cultured successfully to >200-300 PD; however, changes in differentiation morphology over time may be observed. Complete details regarding immortalized cell clone generation and phenotype may be found in the article by Stadler et al. (2011; Skeletal Muscle 1:12 doi:10.1186/2044-5040-1-12).

To request cells

Please e-mail Dr. Charles P. Emerson, Jr at charles.emersonjr@umassmed.edu and cc: Dr. Katelyn Daman at katelyn.daman@umassmed.edu and Jing Yan at jing.yan@umassmed.edu.  

A copy of the material transfer agreement (MTA) and a summary table of available cells will be sent in the reply e-mail. Requests will be handled on a first-come, first-served basis, upon return of completed MTA. Depending on the level of interest, we may not be able to accommodate all requests immediately with the current reserve; the stocks are renewable to a limited extent, but this effort will require time. Generally, from initial inquiry to delivery of cells takes between 1-2 months. Shipping will be billed either through the recipient’s FEDEX account number or as a separate charge. 

For sharing cell lines with companies, our IRB requires that we have a collaboration. This can be as simple as a few follow up meetings to discuss how the cells are functioning in your hands and the results using our cell lines (without any proprietary information) or turn into a more involved collaboration if both parties are interested.