ID   XP6BE
AC   CVCL_F599
AS   CVCL_U683
SY   XP6 BE; Xeroderma Pigmentosum 6 BEthesda; Cay Wen; GM10430; GM 10430
DR   CLO; CLO_0028648
DR   ATCC; CRL-1157
DR   BioSample; SAMN00800015
DR   Coriell; GM10430
DR   Wikidata; Q54844449
RX   CelloPub=CLPUB00447;
RX   PubMed=273925;
RX   PubMed=643622;
RX   PubMed=1372108;
RX   PubMed=3922833;
RX   PubMed=4811796;
RX   PubMed=6409440;
RX   PubMed=30165384;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Gly36_Arg61del; Zygosity=Heterozygous (Coriell=GM10430).
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (Coriell=GM10430).
CC   Discontinued: ATCC; CRL-1157; true.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C3967; Xeroderma pigmentosum, complementation group D
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   19Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 02-05-24; Version: 19
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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=273925; DOI=10.1073/pnas.75.4.1984;
RA   Andrews A.D., Barrett S.F., Robbins J.H.;
RT   "Xeroderma pigmentosum neurological abnormalities correlate with
RT   colony-forming ability after ultraviolet radiation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 75:1984-1988(1978).
//
RX   PubMed=643622; DOI=10.1093/nar/5.3.951;
RA   Kuhnlein U., Lee B., Penhoet E.E., Linn S.M.;
RT   "Xeroderma pigmentosum fibroblasts of the D group lack an apurinic DNA
RT   endonuclease species with a low apparent Km.";
RL   Nucleic Acids Res. 5:951-960(1978).
//
RX   PubMed=1372108; DOI=10.1016/0921-8777(92)90072-b;
RA   Johnson R.T., Squires S.;
RT   "The XPD complementation group. Insights into xeroderma pigmentosum,
RT   Cockayne's syndrome and trichothiodystrophy.";
RL   Mutat. Res. 273:97-118(1992).
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RX   PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162;
RA   Fujiwara Y., Satoh Y.;
RT   "Assignment of two Japanese xeroderma pigmentosum patients to
RT   complementation group D and their characteristics.";
RL   Jpn. J. Cancer Res. 76:162-166(1985).
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RX   PubMed=4811796; DOI=10.7326/0003-4819-80-2-221;
RA   Robbins J.H., Kraemer K.H., Lutzner M.A., Festoff B.W., Coon H.G.;
RT   "Xeroderma pigmentosum. An inherited disease with sun sensitivity,
RT   multiple cutaneous neoplasms, and abnormal DNA repair.";
RL   Ann. Intern. Med. 80:221-248(1974).
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RX   PubMed=6409440; DOI=10.1093/carcin/4.7.911;
RA   Smith P.J., Greene M.H., Adams D., Paterson M.C.;
RT   "Abnormal responses to the carcinogen 4-nitroquinoline 1-oxide of
RT   cultured fibroblasts from patients with dysplastic nevus syndrome and
RT   hereditary cutaneous malignant melanoma.";
RL   Carcinogenesis 4:911-916(1983).
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RX   PubMed=30165384; DOI=10.1093/nar/gky774;
RA   Sabatella M., Theil A.F., Ribeiro-Silva C., Slyskova J., Thijssen K.,
RA   Voskamp C., Lans H., Vermeulen W.;
RT   "Repair protein persistence at DNA lesions characterizes XPF defect
RT   with Cockayne syndrome features.";
RL   Nucleic Acids Res. 46:9563-9577(2018).
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