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

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

Stem Cell Research (Mar 2021)

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

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

Affiliations

Philippa Harding: UCL Institute of Ophthalmology, London, UK
Dulce Lima Cunha: UCL Institute of Ophthalmology, London, UK
Cécile Méjécase: UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK
Jonathan Eintracht: UCL Institute of Ophthalmology, London, UK
Lyes Toualbi: UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK
Hajrah Sarkar: UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK
Mariya Moosajee: UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK; Moorfields Eye Hospital NHS Foundation Trust, London, UK; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; Corresponding author.

Journal volume & issue: Vol. 51
p. 102184

Abstract

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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 free episomal reprogramming. The established iPSC line was found to express pluripotency markers, exhibit differentiation potential in vitro and display a normal karyotype. This cell line will act as a tool for disease modelling of microphthalmia and aniridia, identification of therapeutic targets and drug screening.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

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