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Cellosaurus XP87BE (CVCL_M314)

[Text version]
Cell line name XP87BE
Synonyms Xeroderma Pigmentosum 87 BEthesda; GM16381
Accession CVCL_M314
Resource Identification Initiative To cite this cell line use: XP87BE (RRID:CVCL_M314)
Comments Population: Jewish; Ashkenazi/Sephardic.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12816; XPC; Simple; p.Glu141Leufs*6 (c.420_423delTGAG) (p.Ser140fs*146) (525_528delTGAG); ClinVar=VCV000550638; Zygosity=Heterozygous (PubMed=16081512).
  • Mutation; HGNC; 12816; XPC; Simple; p.Lys522Ter (c.1564A>T); ClinVar=VCV000549952; Zygosity=Heterozygous (PubMed=16081512).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_M315 ! XP87BE LCL
Sex of cell Male
Age at sampling 14Y
Category Finite 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; GM16381
Cell line databases/resources CLO; CLO_0019404
Biological sample resources BioSample; SAMN00804500
Encyclopedic resources Wikidata; Q54848489
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number17