ID   XPH134BE
AC   CVCL_L461
SY   Xeroderma Pigmentosum Heterozygote 134 BEthesda; XP-CS-HF-1; GM01854; GM-1854; GM 1854
DR   CLO; CLO_0031424
DR   BioSample; SAMN00807225
DR   Coriell; GM01854
DR   Wikidata; Q54837127
RX   CelloPub=CLPUB00447;
RX   PubMed=6096450;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3435; ERCC3; Simple; p.Gln739fs*42 (c.2218-6C>A) (IVS14-6C>A); Zygosity=Heterozygous (from autologous cell line XPH134BE LCL).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_L462 ! XPH134BE LCL
SX   Female
AG   64Y
CA   Finite 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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=6096450; DOI=10.1111/1523-1747.ep12260999;
RA   Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.;
RT   "Use of lymphoblastoid cell lines to evaluate the hypersensitivity to
RT   ultraviolet radiation in Cockayne syndrome.";
RL   J. Invest. Dermatol. 82:480-484(1984).
//