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Cellosaurus XPH89BE (CVCL_1F57)

[Text version]
Cell line name XPH89BE
Synonyms Xeroderma Pigmentosum Heterozygote 89 BEthesda; GM16379
Accession CVCL_1F57
Resource Identification Initiative To cite this cell line use: XPH89BE (RRID:CVCL_1F57)
Comments Population: Jewish; Sephardic.
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.Glu141Leufs*6 (c.420_423delTGAG) (p.Ser140fs*146) (525_528delTGAG); ClinVar=VCV000550638; Zygosity=Heterozygous (Coriell=GM16379).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1F59 ! XPH89BE LCL
Sex of cell Female
Age at sampling 39Y
Category Finite cell line
Publications

PubMed=16081512; DOI=10.1093/carcin/bgi204
Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors
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; GM16379
Cell line databases/resources CLO; CLO_0019415
Biological sample resources BioSample; SAMN00804496
Encyclopedic resources Wikidata; Q54848487
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number14