UCLi013-A

Registration Summary:

A P E C

PAX6 p.Asn124Lys

The cell line is not submitted yet.

(only basic data is shown)

General

Cell Line
hPSCreg Name	UCLi013-A
Alternative name(s)	PAX6 p.Asn124Lys
Cell line type	Human induced pluripotent stem cell (hiPSC)
Last update	19th January 2021
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Provider
Generator	University College London (UCL)
External Databases
Cellosaurus	CVCL_ZA79
BioSamples	SAMEA9370377
Wikidata	Q98133850
General Information
Publications	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.

hIPSC Derivation

General