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Cellosaurus XP8BE LCL (CVCL_F488)

[Text version]
Cell line name XP8BE LCL
Synonyms Xeroderma Pigmentosum 8 BEthesda LCL; GM02249; GM02249C; GM2249
Accession CVCL_F488
Resource Identification Initiative To cite this cell line use: XP8BE LCL (RRID:CVCL_F488)
Comments Population: Caucasian.
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.Val696_Val697insVal (c.2092_2093insGTG); Zygosity=Homozygous (PubMed=18809580).
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_F487 ! XP8BE
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=8483505; DOI=10.1038/363185a0
Anne O'Donovan, Richard Dean Wood;
Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5.
Nature 363:185-188(1993)

PubMed=18809580; DOI=10.1128/mcb.00781-08; PMCID=PMC2593387
Bruno M. Bernardes de Jesus, Magnar Bjoras, Frederic Coin, Jean-Marc Egly;
Dissection of the molecular defects caused by pathogenic mutations in the DNA repair factor XPC.
Mol. Cell. Biol. 28:7225-7235(2008)

Cross-references
Cell line collections (Providers) Coriell; GM02249
Cell line databases/resources CLO; CLO_0032156
Biological sample resources BioSample; SAMN00807630
Encyclopedic resources Wikidata; Q54837390
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number17