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Cellosaurus XPH134BE LCL (CVCL_L462)

[Text version]
Cell line name XPH134BE LCL
Synonyms Xeroderma Pigmentosum Heterozygote 134 BEthesda LCL; XP-CS-HF-1 LCL; GM01855; GM-1855; GM 1855; GM1855
Accession CVCL_L462
Resource Identification Initiative To cite this cell line use: XPH134BE LCL (RRID:CVCL_L462)
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; 3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (PubMed=16947863).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_L461 ! XPH134BE
Sex of cell Female
Age at sampling 64Y
Category Transformed cell line
Publications

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

CLPUB00447
Mulivor R.A., Suchy S.F.
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=16947863; DOI=10.1002/humu.20392
Oh K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A.R., Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A., Baker C.C., Kraemer K.H.
Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
Hum. Mutat. 27:1092-1103(2006)

Cross-references
Cell line collections (Providers) Coriell; GM01855
Cell line databases/resources CLO; CLO_0031402
Biological sample resources BioSample; SAMN00807227
Encyclopedic resources Wikidata; Q54837128
Entry history
Entry creation06-May-2013
Last entry update29-Jun-2023
Version number15