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.

Autor:	Harding P; UCL Institute of Ophthalmology, London, UK., Lima Cunha D; UCL Institute of Ophthalmology, London, UK., Méjécase C; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Eintracht J; UCL Institute of Ophthalmology, London, UK., Toualbi L; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Sarkar H; UCL Institute of Ophthalmology, London, UK; The Francis Crick Institute, London, UK., Moosajee M; 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. Electronic address: m.moosajee@ucl.ac.uk.
Jazyk:	angličtina
Zdroj:	Stem cell research [Stem Cell Res] 2021 Mar; Vol. 51, pp. 102184. Date of Electronic Publication: 2021 Jan 18.
DOI:	10.1016/j.scr.2021.102184
Abstrakt:	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. (Copyright © 2021. Published by Elsevier B.V.)
Databáze:	MEDLINE
Externí odkaz: