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Cellosaurus XPH207BE LCL (CVCL_1F32)

[Text version]
Cell line name XPH207BE LCL
Synonyms Xeroderma Pigmentosum Heterozygote 207 BEthesda LCL; GM13296
Accession CVCL_1F32
Resource Identification Initiative To cite this cell line use: XPH207BE LCL (RRID:CVCL_1F32)
Comments Population: Caucasian; Hungarian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12816; XPC; Simple; c.622-2A>G (IVS5.1-2A>G); ClinVar=VCV000550100; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM13296).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 46Y
Category Transformed cell line
Publications

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; GM13296
Cell line databases/resources CLO; CLO_0013324
Biological sample resources BioSample; SAMN00802269
Encyclopedic resources Wikidata; Q54846429
Entry history
Entry creation08-Jul-2015
Last entry update30-Jan-2024
Version number17