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Cellosaurus XP5GO (CVCL_ZP77)

[Text version]
Cell line name XP5GO
Accession CVCL_ZP77
Resource Identification Initiative To cite this cell line use: XP5GO (RRID:CVCL_ZP77)
Comments Population: Iraqi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Lys642Ilefs*20 (c.1923_1934delins25); Zygosity=Homozygous (PubMed=16794584).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 4Y
Category Finite cell line
Publications

PubMed=16794584; DOI=10.1038/sj.jid.5700452
Emmert S., Wetzig T., Imoto K., Khan S.G., Oh K.-S., Laspe P., Zachmann K., Simon J.C., Kraemer K.H.
A novel complex insertion/deletion mutation in the XPC DNA repair gene leads to skin cancer in an Iraqi family.
J. Invest. Dermatol. 126:2542-2544(2006)

Cross-references
Encyclopedic resources Wikidata; Q98135976
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number7