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


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: Competitive Advantages:
  • 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 
 
  • 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


Development Stage:
Basic (Target Identification)

Related Invention(s):
E-164-2014


Inventors:

Anand Swaroop (NEI)  ➽ more inventions...

Yu Chen (NEI)  ➽ more inventions...

Milton English (NEI)  ➽ more inventions...

Hiroko Shimada-Ishii (NEI)  ➽ more inventions...


Intellectual Property:

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

Collaboration Opportunity:

Licensing and research collaboration


Licensing Contact:
John Hewes, Ph.D.
Email: John.Hewes@nih.gov
Phone: 240-276-5515

OTT Reference No: E-100-2020
Updated: Apr 30, 2020