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Induced Pluripotent Stem Cells Derived from Patients with CEP290-associated Ciliopathies and Unaffected Family Members
Abstract: 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...
Published: 12/6/2024   |   Inventor(s): Anand Swaroop, Hiroko Shimada-Ishii, Yu Holly Chen, Milton English
Keywords(s): Anosmia, Cell therapy, Ciliopathies, Congenital Blindness, Drug Development, GENE THERAPY, hearing loss, iPS, National Eye Institute, NEI, Pluripotent Stem Cells, Primary Cilia, Retina, Retinal degeneration, Swaroop, VISION
Category(s): Application > Research Materials, Collaboration Sought > Licensing, Collaboration Sought > Collaboration, TherapeuticArea > Ear, Nose, & Throat, TherapeuticArea > Ophthalmology