ID   XP4PA-SE2
AC   CVCL_F628
SY   GM16248
DR   CLO; CLO_0019446
DR   Coriell; GM16248
DR   Wikidata; Q54994955
RX   PubMed=10681431;
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (from parent cell line).
CC   Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:12816; XPC.
CC   Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P03211; Epstein-Barr virus (strain B95-8) EBNA1.
CC   Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
CC   Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F625 ! XP4PA-SV-EB
SX   Male
AG   Fetus
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 17
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RX   PubMed=10681431; DOI=10.1073/pnas.040559697; PMCID=PMC15769;
RA   Emmert S., Kobayashi N., Khan S.G., Kraemer K.H.;
RT   "The xeroderma pigmentosum group C gene leads to selective repair of
RT   cyclobutane pyrimidine dimers rather than 6-4 photoproducts.";
RL   Proc. Natl. Acad. Sci. U.S.A. 97:2151-2156(2000).
//