ID   XP-CS2
AC   CVCL_L455
SY   XP-CS-2; GM03248; GM 3248; GM3248; GM03248A
DR   CLO; CLO_0016747
DR   BioSample; SAMN00808323
DR   Coriell; GM03248
DR   JCRB; KURB1383
DR   JCRB; KURB1384
DR   JCRB; KURB1385
DR   Wikidata; Q54837972
RX   CelloPub=CLPUB00447;
RX   PubMed=1372108;
RX   PubMed=1702221;
RX   PubMed=3341805;
RX   PubMed=3922833;
RX   PubMed=6096450;
RX   PubMed=7585650;
RX   PubMed=7825573;
RX   PubMed=8823375;
RX   PubMed=26184184;
CC   Sequence variation: Mutation; HGNC; 3434; ERCC2; Simple; p.Gly602Asp (c.1805G>A); ClinVar=VCV002138306; Zygosity=Heterozygous (PubMed=7585650; PubMed=26184184).
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)
OI   CVCL_L456 ! XP-CS2 LCL
OI   CVCL_XG02 ! XPCS2VI
SX   Male
AG   5Y
CA   Finite cell line
DT   Created: 06-05-13; Last updated: 29-06-23; Version: 17
//
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=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).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908;
RA   Satokata I., Tanaka K., Miura N., Miyamoto I., Satoh Y., Kondo S.,
RA   Okada Y.;
RT   "Characterization of a splicing mutation in group A xeroderma
RT   pigmentosum.";
RL   Proc. Natl. Acad. Sci. U.S.A. 87:9908-9912(1990).
//
RX   PubMed=3341805; DOI=10.1001/archderm.1988.01670020074021;
RA   Ichihashi M., Yamamura K., Hiramoto T., Fujiwara Y.;
RT   "No apparent neurologic defect in a patient with xeroderma pigmentosum
RT   complementation group D.";
RL   Arch. Dermatol. 124:256-260(1988).
//
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).
//
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).
//
RX   PubMed=7585650;
RA   Takayama K., Salazar E.P., Lehmann A.R., Stefanini M., Thompson L.H.,
RA   Weber C.A.;
RT   "Defects in the DNA repair and transcription gene ERCC2 in the
RT   cancer-prone disorder xeroderma pigmentosum group D.";
RL   Cancer Res. 55:5656-5663(1995).
//
RX   PubMed=7825573;
RA   Broughton B.C., Thompson A.F., Harcourt S.A., Vermeulen W.,
RA   Hoeijmakers J.H.J., Botta E., Stefanini M., King M.D., Weber C.A.,
RA   Cole J., Arlett C.F., Lehmann A.R.;
RT   "Molecular and cellular analysis of the DNA repair defect in a patient
RT   in xeroderma pigmentosum complementation group D who has the clinical
RT   features of xeroderma pigmentosum and Cockayne syndrome.";
RL   Am. J. Hum. Genet. 56:167-174(1995).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki S.-i., Stefanini M., Lehmann A.R., Hoeijmakers J.H.J.,
RA   Robbins J.H., Rapin I., Botta E., Tanganelli B., Vermeulen W.,
RA   Broughton B.C., Kraemer K.H.;
RT   "DNA repair and ultraviolet mutagenesis in cells from a new patient
RT   with xeroderma pigmentosum group G and Cockayne syndrome resemble
RT   xeroderma pigmentosum cells.";
RL   J. Invest. Dermatol. 107:647-653(1996).
//
RX   PubMed=26184184; DOI=10.3390/ijms160715985;
RA   Bowden N.A., Beveridge N.J., Ashton K.A., Baines K.J., Scott R.J.;
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//