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

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Abstract

This protocol is the clinical vehicle by which NEI intramural laboratories obtain human tissue specimens (skin biopsy, blood) for laboratory experiments involving the creation of disease-specific iPS cells that can be differentiated into retinal pigment epithelium (RPE) or neural retina, especially photoreceptors. The overarching goal of the associated basic research is to model human disease at the cellular/molecular level. This protocol has enrolled a total of 149 research subjects, including controls. Diagnoses that have been included for study include: MITF mutations/Waardenburg syndrome, type 2A (12); ABCA4 retinopathy/Stargardt disease (3); oculocutaneous albinism (14); age-related macular degeneration (49); coloboma (1); enhanced S cone syndrome (1); Best disease (12); Leber congenital amaurosis (7); late-onset retinal degeneration (2); aniridia/PAX6 mutations (2); and Joubert syndrome (2). Appropriate first-degree-relative controls have been obtained for all diagnoses. Samples have been successfully reprogrammed into iPS cells and differentiated into RPE (Bharti Lab) or neural retina-like cells (Swaroop.)