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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: 4/8/2024 | 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 > Opthamology, TherapeuticArea > Eye / Ear / Nose / Throat

Patient-derived induced pluripotent stem cell (iPSC) lines for the study of lysosomal storage diseases (LSDs)

This technology includes the generation and use of human induced pluripotent stem cell (iPSC) lines that can be used to study and screen potential therapeutics for lysosomal storage diseases (LSDs). LSDs are a group of 50 genetic disorders caused by mutations in the genes encoding lysosomal enzymes and proteins. Although various therapeutic approaches...

Published: 7/25/2024 | Inventor(s): Miao Xu, Yu-Shan Cheng, Manisha Pradhan, Jizhong Zou, Jeanette Beers, Wei Zheng

Keywords(s): Cell, COMPOUND, DERIVED, Disease, iPS, Lines, Lysosomal, Modeling, PATIENT, screening, Storage, VPXXXX, WIXXXX, XHXXXX

Category(s): TherapeuticArea > Cardiology, TherapeuticArea > Infectious Disease, TherapeuticArea > Ophthalmology, TherapeuticArea > Dental, TherapeuticArea > Oncology, TherapeuticArea > Endocrinology, Application > Research Materials, ResearchProducts > Research Equipment