ID   XPH135BE LCL
AC   CVCL_L463
SY   Xeroderma Pigmentosum Heterozygote 135 BEthesda LCL; GM11394
DR   CLO; CLO_0026092
DR   Coriell; GM11394
DR   Wikidata; Q54845054
RX   CelloPub=CLPUB00447;
RX   PubMed=16947863;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3435; ERCC3; Simple; p.Phe270Ter (c.807_808delTT); Zygosity=Heterozygous (PubMed=16947863).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   82Y
CA   Transformed cell line
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 13
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=16947863; DOI=10.1002/humu.20392;
RA   Oh K.-S., Khan S.G., Jaspers N.G.J., Raams A., Ueda T., Lehmann A.R.,
RA   Friedmann P.S., Emmert S., Gratchev A., Lachlan K., Lucassan A.,
RA   Baker C.C., Kraemer K.H.;
RT   "Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3):
RT   xeroderma pigmentosum without and with Cockayne syndrome.";
RL   Hum. Mutat. 27:1092-1103(2006).
//