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Cellosaurus XPH135BE LCL (CVCL_L463)

[Text version]
Cell line name XPH135BE LCL
Synonyms Xeroderma Pigmentosum Heterozygote 135 BEthesda LCL; GM11394
Accession CVCL_L463
Resource Identification Initiative To cite this cell line use: XPH135BE LCL (RRID:CVCL_L463)
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.Phe270Ter (c.807_808delTT); Zygosity=Heterozygous (PubMed=16947863).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 82Y
Category Transformed cell line
Publications

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; GM11394
Cell line databases/resources CLO; CLO_0026092
Encyclopedic resources Wikidata; Q54845054
Entry history
Entry creation06-May-2013
Last entry update29-Jun-2023
Version number13