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Article

Production and Limbal Lineage Commitment of Aniridia Patient-Derived Induced Pluripotent Stem Cells

26 Aug 2023

Abstract excerpt

Congenital aniridia is caused by heterozygous mutations on the PAX6 gene leading to reduced amount of PAX6 protein (haploinsufficiency), abnormal eye development, and aniridia-associated keratopathy (AAK). This progressive corneal opacification resembles late-onset limbal stem cell (LSC) deficiency, leading to disrupted corneal epithelial renewal. The factors leading to AAK are not known and defects in native LSC...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Identifiers

PMID: 37632794
DOI: 10.1093/stmcls/sxad067

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