Cellosaurus logo
expasy logo

Cellosaurus XPH135BE LCL (CVCL_L463)

[Text][XML][JSON]
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; 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
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=16947863; DOI=10.1002/humu.20392
Kyu-Seon Oh, Sikandar G. Khan, Nicolaas G.J. Jaspers, Anja Raams, Takahiro Ueda, Alan R. Lehmann, Peter S. Friedmann, Steffen Emmert, Alexei Gratchev, Katherine Lachlan, Anneke Lucassan ...Show all 13 authors... , Carl C. Baker, Kenneth H. Kraemer; Show fewer authors
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 update19-Dec-2024
Version number14