ID   XPCS2BA
AC   CVCL_V272
SY   XP2BA; Xeroderma Pigmentosum/Cockayne Syndrome 2 BAsel; GM13026
DR   CLO; CLO_0013998
DR   EFO; EFO_0022698
DR   BioSample; SAMN00802024
DR   Coriell; GM13026
DR   Wikidata; Q54846269
RX   PubMed=8408834;
RX   PubMed=9584159;
RX   PubMed=10332046;
RX   PubMed=16947863;
RX   PubMed=18079351;
RX   PubMed=26184184;
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe99Ser (c.296T>C); ClinVar=VCV000016583; Zygosity=Heterozygous (PubMed=16947863; PubMed=26184184).
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Lys157insThrSerAspSerTer (c.471+1G>A); ClinVar=VCV000016589; Zygosity=Heterozygous (PubMed=16947863; PubMed=26184184).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C156031; Xeroderma pigmentosum-Cockayne syndrome complex
DI   ORDO; Orphanet_220295; Xeroderma pigmentosum-Cockayne syndrome complex
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   36Y
CA   Finite cell line
DT   Created: 16-04-14; Last updated: 19-12-24; Version: 16
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RX   PubMed=8408834; DOI=10.1016/0190-9622(93)70263-s;
RA   Scott R.J., Itin P., Kleijer W.J., Kolb K., Arlett C.F., Muller H.;
RT   "Xeroderma pigmentosum-Cockayne syndrome complex in two patients:
RT   absence of skin tumors despite severe deficiency of DNA excision
RT   repair.";
RL   J. Am. Acad. Dermatol. 29:883-889(1993).
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RX   PubMed=9584159; DOI=10.1128/mcb.18.6.3182; PMCID=PMC108900;
RA   Rapic-Otrin V., Kuraoka I., Nardo T., McLenigan M., Eker A.P.M.,
RA   Stefanini M., Levine A.S., Wood R.D.;
RT   "Relationship of the xeroderma pigmentosum group E DNA repair defect
RT   to the chromatin and DNA binding proteins UV-DDB and replication
RT   protein A.";
RL   Mol. Cell. Biol. 18:3182-3190(1998).
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RX   PubMed=10332046; DOI=10.1093/hmg/8.6.1125;
RA   Riou L., Zeng L., Chevallier-Lagente O., Stary A., Nikaido O.,
RA   Taieb A., Weeda G., Mezzina M., Sarasin A.;
RT   "The relative expression of mutated XPB genes results in xeroderma
RT   pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular
RT   phenotypes.";
RL   Hum. Mol. Genet. 8:1125-1133(1999).
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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).
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RX   PubMed=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.;
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
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RX   PubMed=26184184; DOI=10.3390/ijms160715985; PMCID=PMC4519934;
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).
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