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Cellosaurus XP2OS LCL (CVCL_F512)

[Text version]
Cell line name XP2OS LCL
Synonyms Xeroderma Pigmentosum 2 OSaka LCL; GM02345; GM 2345; GM2345; GM2345A; GM02345B; GM2345B; GM17051
Accession CVCL_F512
Resource Identification Initiative To cite this cell line use: XP2OS LCL (RRID:CVCL_F512)
Comments Part of: Human variation panel.
Population: Japanese.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (Coriell=GM17051).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_F510 ! XP2OS
Sex of cell Female
Age at sampling 8Y
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)

PubMed=2805228; DOI=10.1093/carcin/10.11.2067
Izumi Arita, Akira Tachibana, Hiraku Takebe, Kouichi Tatsumi;
Predominance of Mex+ cells in newly-established human lymphoblastoid cell lines.
Carcinogenesis 10:2067-2073(1989)

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=8327515; DOI=10.1073/pnas.90.13.6335; PMCID=PMC46923
Masahiko S. Satoh, Christopher J. Jones, Richard Dean Wood, Tomas Robert Lindahl;
DNA excision-repair defect of xeroderma pigmentosum prevents removal of a class of oxygen free radical-induced base lesions.
Proc. Natl. Acad. Sci. U.S.A. 90:6335-6339(1993)

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=9025096; DOI=10.1093/mutage/12.1.41
Takashi Yagi, Richard Dean Wood, Hiraku Takebe;
A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells.
Mutagenesis 12:41-44(1997)

PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900
Vesna Rapic-Otrin, Isao Kuraoka, Tiziana Nardo, Mary McLenigan, Andre P.M. Eker, Miria Stefanini, Arthur S. Levine, Richard Dean Wood;
Relationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.
Mol. Cell. Biol. 18:3182-3190(1998)

Cross-references
Cell line collections (Providers) Coriell; GM02345
Coriell; GM17051
Cell line databases/resources CLO; CLO_0014646
CLO; CLO_0033111
Biological sample resources BioSample; SAMN00807727
Encyclopedic resources Wikidata; Q54837452
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number24