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Cellosaurus XPH294BE (CVCL_X830)

[Text version]
Cell line name XPH294BE
Synonyms Xeroderma Pigmentosum Heterozygote 294 BEthesda; AG10034
Accession CVCL_X830
Resource Identification Initiative To cite this cell line use: XPH294BE (RRID:CVCL_X830)
Comments Population: Native North American.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12816; XPC; Simple; c.622-2A>C (IVS5.1-2A>C); ClinVar=VCV000190209; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=AG10034).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_X831 ! XPH294BE LCL
Sex of cell Female
Age at sampling 45Y4M
Category Finite cell line
Publications

CLPUB00597
National Institute on Aging
1994 catalog of cell lines. NIA Aging Cell Repository.
(In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994)

PubMed=16081512; DOI=10.1093/carcin/bgi204
Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A., Kraemer K.H.
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 27:84-94(2006)

Cross-references
Cell line collections (Providers) Coriell; AG10034
Cell line databases/resources CLO; CLO_0021886
Encyclopedic resources Wikidata; Q54743200
Entry history
Entry creation05-Sep-2014
Last entry update30-Jan-2024
Version number14