ID   UCLi013-A
AC   CVCL_ZA79
SY   PAX6 p.N124K; PAX6 p.Asn124Lys
DR   BioSamples; SAMEA9370377
DR   hPSCreg; UCLi013-A
DR   Wikidata; Q98133850
RX   PubMed=33524672;
CC   From: University College London; London; United Kingdom.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 8620; PAX6; Simple; p.Asn124Lys (c.372C>A); Zygosity=Heterozygous (PubMed=33524672).
CC   Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84563; Aniridia
DI   ORDO; Orphanet_98557; Syndromic aniridia
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   34Y
CA   Induced pluripotent stem cell
DT   Created: 02-07-20; Last updated: 30-01-24; Version: 9
//
RX   PubMed=33524672; DOI=10.1016/j.scr.2021.102184; PMCID=PMC7957338;
RA   Harding P., Lima Cunha D., Mejecase C., Eintracht J., Toualbi L.,
RA   Sarkar H., Moosajee M.;
RT   "Generation of human iPSC line (UCLi013-A) from a patient with
RT   microphthalmia and aniridia, carrying a heterozygous missense
RT   mutation c.372C>A p.(Asn124Lys) in PAX6.";
RL   Stem Cell Res. 51:102184-102184(2021).
//