Immortalized Transformed Lymphoblastoid Cell Lines from Patients with Fran?ois-Neetens Mouchet?e Fleck Corneal Dystrophy (CFD)
Posted Sep 22 2009 5:00pm
Description of Invention: Researchers at the National Eye Institute, NIH, have made available a set of immortalized transformed lymphoblastoid cell lines created from human T-lymphocytes obtained from patients with François-Neetens Mouchetée Fleck Corneal Dystrophy (CFD). The cells were transformed with defective Epstein-Barr virus using established methods.
CFD is a rare, autosomal dominant corneal dystrophy characterized by numerous small white flecks scattered in all layers of the stroma. CFD has been associated with mutations in the PIP5K3 protein, which is important for post-Golgi vesicle processing.
Useful in the study of proteins expressed by lymphocytes, including in some cases the protein encoded by the mutant gene KCNJ13.
Useful as a renewable source of DNA for genetic studies related to CFD or the PIP5K3 protein.
Research Tool -- patent protection is not being pursued for this technology
S Li et al. Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy. Am J Hum Genet. 2005 Jul;77(1):54-63. [ PubMed abs ]
X Jiao et al. Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35. Hum Genet. 2003 May;112(5-6):593-599. [ PubMed abs ]
Licensing Status: Available for licensing under a biological material license.
Portfolios: Devices/Instrumentation Devices/Instrumentation - Research Tools and Materials Internal Medicine Internal Medicine - Research Materials
For Additional Information Please Contact: Patrick McCue Ph.D. NIH Office of Technology Transfer 6011 Executive Blvd. Suite 325, Rockville, MD 20852 United States Email: McCuepat@mail.nih.gov Phone: 301-496-7057 Fax: 301-402-0220