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Article

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 - 1 Mar 2021

Harding Philippa, Lima Cunha Dulce, Méjécase Cécile, Eintracht Jonathan, Toualbi Lyes, Sarkar Hajrah, Moosajee Mariya

Abstract excerpt

A human induced pluripotent stem cell (hiPSC) line (UCLi013-A) was generated from fibroblast cells of a 34-year-old donor with multiple ocular conditions including severe microphthalmia and aniridia. The patient had a heterozygous missense mutation in PAX6 c.372C>A, p.(Asn124Lys), validated in the fibroblasts through Sanger sequencing. Fibroblasts derived from a skin biopsy were reprogrammed using integration...

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Aniridia
Fibroblasts
Heterozygote
Induced Pluripotent Stem Cells
Microphthalmos

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation, Missense

PAX6 Transcription Factor

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Identifiers

PMID: 33524672
DOI: 10.1016/j.scr.2021.102184
PMCID: PMC7957338

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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