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Induced Pluripotent Stem Cells Derived from Patients with CEP290-associated Ciliopathies and Unaffected Family Members

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Summary
The National Eye Institute (NEI) seeks research collaborations and/or licensees for the use of induced pluripotent stem cells (IPS cells) derived from patients with CEP290 associated ciliopathies. IPS cells were derived from patients with Leber-congenital amaurosis and their unaffected relatives.
NIH Reference Number
E-100-2020
Product Type
  • Research Tools
Keywords
  • Pluripotent Stem Cells, iPS, Retinal Degeneration, Congenital Blindness, Primary Cilia, Retina, Ciliopathies, Vision, Hearing Loss, Anosmia, Drug Development, Gene Therapy, Cell Therapy, National Eye Institute, NEI, Swaroop
Collaboration Opportunity
This invention is available for licensing and co-development.
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Description of Technology

Approximately one-third of non-syndromic retinal dystrophies involve a defect in a ciliary protein. Non-syndromic retinal ciliopathies include retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, macular dystrophy, and Leber-congenital amaurosis (LCA). Many CEP290-LCA patients also exhibit auditory and olfactory defects. Induced pluripotent stem cells (iPS) cells were derived from patients with LCA and unaffected relatives. 
The National Eye Institute (NEI) seeks research collaborations and/or licensees for the use of these iPS cells.

Potential Commercial Applications
  • Screening for agents to treat patients with CEP290-associated ciliopathies such as retinitis pigmentosa, cone dystrophy, cone-rod dystrophy, macular dystrophy, and Leber-congenital amaurosis 
Competitive Advantages
  • Extensive characterization, including use in making 3-D retinal organoids and optic cup organoids
  • Complement studies with model organisms and examine retinal dystrophies relevant to humans
Inventor(s)

Anand Swaroop Ph.D. (NEI), Yu Holly Chen Ph.D. (NEI), Milton English (NEI), Hiroko Shimada-Ishii Ph.D. (NEI)

Development Stage
  • Basic (Target Identification)
Publications

Shimada H, el al. In vitro modeling using ciliopathy patient-derived cells reveals distinct cilia dysfunctions caused by CEP290 mutations [PMID 28700940]

Patent Status
  • Research Material: NIH will not pursue patent prosecution for this technology
Related Technologies
  • E-164-2014
Therapeutic Area
  • Eye and Ear, Nose & Throat
Updated
Thursday, April 30, 2020