UCLi013-A

Cell Line

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General Information

• Harding P et al. Generation of human iPSC line (UCLi013-A) from a patient with microphthalmia and aniridia, carrying a heterozygous missense mutation c.372C>A p.(Asn124Lys) in PAX6. Stem cell research. 2021 Mar;51:102184.
• Abdolkarimi D et al. PAX6 disease models for aniridia. Indian journal of ophthalmology. 2022 Dec;70(12):4119-4129.
• Tamayo A et al. Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia. International journal of molecular sciences. 2023 Jan 13;24(2).
• Roshandel Danial et al. Genetic predisposition to ocular surface disorders and opportunities for gene-based therapies. The Ocular Surface. 2023-07-00.
• Lima Cunha D et al. Restoration of functional PAX6 in aniridia patient iPSC-derived ocular tissue models using repurposed nonsense suppression drugs. Molecular therapy. Nucleic acids. 2023 Sep 12;33:240-253.
• Ilmarinen Tanja et al. Production and Limbal Lineage Commitment of Aniridia Patient-Derived Induced Pluripotent Stem Cells. Stem Cells. 2023-12-14.
• Eintracht Jonathan et al. Disruption of common ocular developmental pathways in patient-derived optic vesicle models of microphthalmia. Stem Cell Reports. 2024-06-00.
• Koc AC et al. Patient-derived cornea organoid model to study metabolomic characterization of rare disease: aniridia-associated keratopathy. BMC ophthalmology. 2025 Jan 10;25(1):14.
• Goyal S et al. Genetic and environmental factors contributing to anophthalmia and microphthalmia: Current understanding and future directions. World journal of clinical pediatrics. 2025 Jun 9;14(2):101982.
• Harding Philippa et al. Variant-specific disruption to notch signalling in PAX6 microphthalmia and aniridia patient-derived hiPSC optic cup-like organoids. Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 2025-08-00.

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