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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; HGNC:12816; XPC; Simple; p.Glu141Leufs*6 (c.420_423delTGAG) (p.Ser140fs*146) (525_528delTGAG); ClinVar=VCV000550638; Zygosity=Heterozygous (PubMed=16081512).
  • Mutation; HGNC; 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
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; 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 update19-Dec-2024
Version number18