Human Melanoma Metastasis Cell Lines Harboring TRRAP, GRIN2A, and PLCB4 Mutations

Researchers at the NIH have identified several novel somatic (e.g., tumor-specific) alterations, many of which have not previously been known to be genetically altered in tumors or linked to melanoma. In particular, the researchers identified a recurrent “hotspot” mutation in the transformation/transcription domain-associated protein (TRRAP) gene, identified the glutamate receptor ionotropic N-methyl D-aspartate 2A (GRIN2A) gene as a highly mutated in melanoma, and have shown that the majority of melanoma tumors have alternations in genes encoding members of the glutamate signaling pathway, such as phospholipase C, beta 4 (PLCB4). Therefore, this technology not only provides a comprehensive map of genetic alterations in melanoma, but has important diagnostic and therapeutic applications.

Available for licensing are several melanoma cell lines that harbor TRRAP, GRIN2A, and PLCB4 mutations. These cell lines provide useful and efficient tools for studying melanoma and can be used in the development of specific therapeutics for patients harboring these mutations. Specifically, these cell lines could be used to develop inhibitors to limit tumor growth and further understand melanoma and the biology of these genes.

Potential Commercial Applications: Competitive Advantages:
  • Diagnostic array for the detection of TRRAP, GRIN2A, and PLCB4 mutations.
  • Method of identifying TRRAP, GRIN2A, and PLCB4 inhibitors as therapeutic agents to treat malignant melanoma patients.
  • In vitro and in vivo cell model for understanding the biology of TRRAP, GRIN2A, and PLCB4, including growth, motility, invasion, and metabolite production.
  • Cell lines are derived from melanoma patients.
  • TRRAP, GRIN2A, and PLCB4 mutations are highly frequent and/or highly mutated in melanomas.
  • Glutamate antagonists have already been shown to inhibit tumor growth. Thus, this technology may prove useful for the development of novel diagnostic tests and therapeutics.

Development Stage:

Related Invention(s):


Yardena Samuels (NHGRI)  ➽ more inventions...

Steven Rosenberg (NCI)  ➽ more inventions...

Intellectual Property:
Research Tool — Patent protection is not being pursued for the TRRAP, GRIN2A, PLCB4 melanoma metastatic cell lines.

Wei X, et al. PMID 21499247

Collaboration Opportunity:

The NHGRI is seeking statements of capability or interest from parties interested in collaborative research to further develop, evaluate or commercialize this technology. For collaboration opportunities, please contact Claire Driscoll, Director, NHGRI Technology Transfer Office, at or 301-594-2235.

Licensing Contact:
Eggerton Campbell, Ph.D.
Phone: 301-402-1648

OTT Reference No: E-024-2012-0
Updated: May 8, 2018