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Cellosaurus UCLi013-A (CVCL_ZA79)

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Cell line name UCLi013-A
Synonyms PAX6 p.N124K; PAX6 p.Asn124Lys
Accession CVCL_ZA79
Resource Identification Initiative To cite this cell line use: UCLi013-A (RRID:CVCL_ZA79)
Comments From: University College London; London; United Kingdom.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8620; PAX6; Simple; p.Asn124Lys (c.372C>A); Zygosity=Heterozygous (PubMed=33524672).
Disease Aniridia (NCIt: C84563)
Syndromic aniridia (ORDO: Orphanet_98557)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 34Y
Category Induced pluripotent stem cell
Publications

PubMed=33524672; DOI=10.1016/j.scr.2021.102184; PMCID=PMC7957338
Philippa Harding, Dulce Lima Cunha, Cecile Mejecase, Jonathan Eintracht, Lyes Toualbi, Hajrah Sarkar, Mariya Moosajee;
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 Res. 51:102184-102184(2021)

Cross-references
Cell line databases/resources hPSCreg; UCLi013-A
Biological sample resources BioSamples; SAMEA9370377
Encyclopedic resources Wikidata; Q98133850
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number10