ID   XPCS2BASV
AC   CVCL_ZP38
DR   Wikidata; Q98136289
RX   PubMed=9415314;
RX   PubMed=10332046;
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Phe99Ser (c.296T>C); ClinVar=VCV000016583; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3435; ERCC3; Simple; p.Lys157insThrSerAspSerTer (c.471+1G>A); ClinVar=VCV000016589; Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
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)
HI   CVCL_V272 ! XPCS2BA
SX   Male
AG   36Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 8
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RX   PubMed=9415314; DOI=10.1038/sj.gt.3300495;
RA   Zeng L., Quilliet X., Chevallier-Lagente O., Eveno E., Sarasin A.,
RA   Mezzina M.;
RT   "Retrovirus-mediated gene transfer corrects DNA repair defect of
RT   xeroderma pigmentosum cells of complementation groups A, B and C.";
RL   Gene Ther. 4:1077-1084(1997).
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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).
//