Patient-derived cornea organoid model to study metabolomic characterization of rare disease: aniridia-associated keratopathy

Patient-derived cornea organoid model to study metabolomic characterization of rare disease: aniridia-associated keratopathy

Abstract Background Aniridia is a rare panocular disease caused by gene mutation in the PAX6, which is essential for eye development. Aniridia is inherited in an autosomal dominant manner, but its phenotype can vary significantly among individuals with the same mutation. Animal models, such as droso...

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Bibliographic Details
Main Authors: Ali Can Koc, Vedat Sari, Gamze Kocak, Tuba Recber, Emirhan Nemutlu, Daniel Aberdam, Sinan Güven
Format: Article
Language:English
Published: BMC 2025-01-01
Series:BMC Ophthalmology
Subjects:
Aniridia
Pax6
HiPSCs (Human induced pluripotent stem cells)
Cornea organoids
Metabolomics
Aniridia-associated keratopathy (AAK)
Online Access:https://doi.org/10.1186/s12886-024-03831-w
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https://doi.org/10.1186/s12886-024-03831-w

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