Researchers at the National Eye Institute, National Institutes of Health, 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.
Applications
- 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.
Licensing Status: Available for licensing under a biological material license.
Licensing Contact: Patrick P. McCue, Ph.D.; 301-435-5560; mccuepat@mail.nih.gov
