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Cellosaurus XP87BE LCL (CVCL_M315)

[Text version]
Cell line name XP87BE LCL
Synonyms Xeroderma Pigmentosum 87 BEthesda LCL; GM16385
Accession CVCL_M315
Resource Identification Initiative To cite this cell line use: XP87BE LCL (RRID:CVCL_M315)
Comments Population: Jewish; Ashkenazi/Sephardic.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Glu141Leufs*6 (c.420_423delTGAG) (p.Ser140fs*146) (525_528delTGAG); ClinVar=VCV000550638; Zygosity=Heterozygous (Coriell=GM16385).
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Lys522Ter (c.1564A>T); ClinVar=VCV000549952; Zygosity=Heterozygous (Coriell=GM16385).
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_M314 ! XP87BE
Sex of cell Male
Age at sampling 14Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM16385
Cell line databases/resources CLO; CLO_0019398
Biological sample resources BioSample; SAMN00804506
Encyclopedic resources Wikidata; Q54848494
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number18