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; 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: 19-12-24; Version: 18
//
RX   PubMed=3922833; DOI=10.20772/cancersci1985.76.3_162;
RA   Fujiwara, Yoshisada
RA   Satoh, Yoshiaki
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=1372108; DOI=10.1016/0921-8777(92)90072-b;
RA   Johnson, Robert T.
RA   Squires, Shoshana
RT   "The XPD complementation group. Insights into xeroderma pigmentosum,
RT   Cockayne's syndrome and trichothiodystrophy.";
RL   Mutat. Res. 273:97-118(1992).
//
RX   PubMed=8823375; DOI=10.1111/1523-1747.ep12584287;
RA   Moriwaki, Shin-ichi
RA   Stefanini, Miria
RA   Lehmann, Alan R.
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Robbins, Jay H.
RA   Rapin, Isabelle
RA   Botta, Elena
RA   Tanganelli, Bianca
RA   Vermeulen, Wim
RA   Broughton, Bernard C.
RA   Kraemer, Kenneth 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   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon 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=3341805; DOI=10.1001/archderm.1988.01670020074021;
RA   Ichihashi, Masamitsu
RA   Yamamura, Keizo
RA   Hiramoto, Takeaki
RA   Fujiwara, Yoshisada
RT   "No apparent neurologic defect in a patient with xeroderma pigmentosum
RT   complementation group D.";
RL   Arch. Dermatol. 124:256-260(1988).
//
RX   PubMed=7585650;
RA   Takayama, Kyoko
RA   Salazar, Edmund P.
RA   Lehmann, Alan R.
RA   Stefanini, Miria
RA   Thompson, Lawrence H.
RA   Weber, Christine 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=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934;
RA   Bowden, Nikola A.
RA   Beveridge, Natalie J.
RA   Ashton, Katie A.
RA   Baines, Katherine J.
RA   Scott, Rodney James
RT   "Understanding xeroderma pigmentosum complementation groups using gene
RT   expression profiling after UV-light exposure.";
RL   Int. J. Mol. Sci. 16:15985-15996(2015).
//
RX   PubMed=1702221; DOI=10.1073/pnas.87.24.9908; PMCID=PMC55283;
RA   Satokata, Ichiro
RA   Tanaka, Kiyoji
RA   Miura, Naoyuki
RA   Miyamoto, Iwai
RA   Satoh, Yoshiaki
RA   Kondo, Seiji
RA   Okada, Yoshio
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=6096450; DOI=10.1111/1523-1747.ep12260999;
RA   Otsuka, Fujio
RA   Tarone, Robert E.
RA   Cayeux, Sophie
RA   Robbins, Jay 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=7825573; PMCID=PMC1801309;
RA   Broughton, Bernard C.
RA   Thompson, Annette F.
RA   Harcourt, Susan A.
RA   Vermeulen, Wim
RA   Hoeijmakers, Jan Hendrik Jozef
RA   Botta, Elena
RA   Stefanini, Miria
RA   King, Mary D.
RA   Weber, Christine A.
RA   Cole, Jane
RA   Arlett, Colin Francis
RA   Lehmann, Alan 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).
//