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Cellosaurus XP4PA-SE2 (CVCL_F628)

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Cell line name XP4PA-SE2
Synonyms GM16248
Accession CVCL_F628
Resource Identification Initiative To cite this cell line use: XP4PA-SE2 (RRID:CVCL_F628)
Comments Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:12816; XPC.
Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P03211; Epstein-Barr virus (strain B95-8) EBNA1.
Genetic integration: Method=Transfection/transduction; Gene=UniProtKB; P00557; Escherichia coli hygromycin-B 4-O-kinase (hph) (HygR).
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pLASwt).
Derived from site: In situ; Amniotic fluid; UBERON=UBERON_0000173.
Sequence variations
  • 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).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F625 (XP4PA-SV-EB)
Sex of cell Male
Age at sampling Fetus
Category Transformed cell line
Publications

PubMed=10681431; DOI=10.1073/pnas.040559697; PMCID=PMC15769
Steffen Emmert, Nobuhiko Kobayashi, Sikandar G. Khan, Kenneth H. Kraemer;
The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts.
Proc. Natl. Acad. Sci. U.S.A. 97:2151-2156(2000)

Cross-references
Cell line collections (Providers) Coriell; GM16248
Cell line databases/resources CLO; CLO_0019446
Encyclopedic resources Wikidata; Q54994955
Entry history
Entry creation11-Feb-2013
Last entry update19-Dec-2024
Version number17