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Cellosaurus XP9BE LCL (CVCL_F490)

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Cell line name XP9BE LCL
Synonyms Xeroderma Pigmentosum 9 BEthesda LCL; GM02498; GM 2498; GM2498; GM02498B
Accession CVCL_F490
Resource Identification Initiative To cite this cell line use: XP9BE LCL (RRID:CVCL_F490)
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 (from autologous cell line XP9BE).
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_F489 ! XP9BE
Sex of cell Male
Age at sampling 16Y
Category Transformed cell line
Publications

PubMed=6096450; DOI=10.1111/1523-1747.ep12260999
Fujio Otsuka, Robert E. Tarone, Sophie Cayeux, Jay H. Robbins;
Use of lymphoblastoid cell lines to evaluate the hypersensitivity to ultraviolet radiation in Cockayne syndrome.
J. Invest. Dermatol. 82:480-484(1984)

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=7519740; DOI=10.1016/0165-7992(94)90014-0
Christopher J. Jones, R. Stephen Lloyd, Richard Dean Wood;
Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene.
Mutat. Res. 324:159-164(1994)

PubMed=16990803; DOI=10.1038/sj.jid.5700555; PMCID=PMC3031115
James Edward Cleaver, Luzviminda Feeney, Jean Y. Tang, Peggy Tuttle;
Xeroderma pigmentosum group C in an isolated region of Guatemala.
J. Invest. Dermatol. 127:493-496(2007)

Cross-references
Cell line collections (Providers) Coriell; GM02498
Cell line databases/resources CLO; CLO_0033233
Encyclopedic resources Wikidata; Q54837522
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number18