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.IC: NEINIH Ref. No.: E-100-2020Advantages: Extensive characterization, including use in making 3-D retinal organoids and optic cup organoidsComplement studies with model organisms and examine retinal dystrophies relevant to humansApplications: 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  Development Status: Basic (Target Identification)Updated On: Apr 30, 2020Date Published: Thursday, April 30, 2020Lead Inventor: Inventor IC: NEINEINEINEILPM FIrst Name: JohnLPM Last Name: HewesInv Is lead: LPM Phone: [phone]LPM Email: [e-mail] Suffix: Ph.D.LPM Organization: NCI - National Cancer InstituteDTDT Classification: Research ToolsDTDT Description: Research ToolsPublication Link: https://www...

Source: NIH OTT Licensing Opportunities - April 30, 2020 Category: Research Authors: ajoyprabhu3 Source Type: research