Generation of Induced Pluripotent Stem (iPS) Cell Lines from Somatic Cells of Participants with Eye Diseases and from Somatic Cells of Matched Controls

National Eye Institute

Investigators

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Abstract

Since the creation of this protocol, we have accrued blood and skin fibroblast samples on human subjects with diseases of interest (e.g., age-related macular degeneration, ABCA4, Leber congenital amaurosis). To date, the science that has been performed on these samples has been done in the laboratories of Dr. Kapil Bharti and Dr. Anand Swaroop. Details on these research projects can be found in their annual reports. The protocol is approved currently for 455 total samples from the following kinds of patients: 25 with Best Vitelliform Dystrophy (Best disease), 25 with Late-Onset Retinal Degeneration (L-ORD) disease, and 100 with Age-related Macular Degeneration (AMD), 25 with Leber Congenital Amaurosis (LCA), 25 with Joubert syndrome, 25 with X-linked Retinitis Pigmentosa (RP), 25 with Oculocutaneous Albinism Type 1A (OCA1A), 25 with Oculocutaneous Albinism Type 1B (OCA1B), 25 with Oculocutaneous Albinism Type 2 (OCA2), 25 with Stargardts disease with ABCA4 mutations, 25 with eye diseases associated with MITF gene mutations, 25 with Waardenburg syndrome, 25 with eye diseases associated with PAX2 gene mutations and 25 with eye diseases associated with PAX6 gene mutations, 25 with coloboma and 5 with Enhanced S cone syndrome.