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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.

James F Hejtmancik (NEI)
Xiaodong N Jiao (NEI)

Patent Status:
HHS, Reference No. E-270-2009/0

Research Tool -- patent protection is not being pursued for this technology

Relevant Publication:
  1. 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 ]
  2. 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.

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
Phone: 301-496-7057
Fax: 301-402-0220

Ref No: 2020

Updated: 09/2009

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