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Cellosaurus XP24BE LCL (CVCL_M301)

[Text version]
Cell line name XP24BE LCL
Synonyms Xeroderma Pigmentosum 24 BEthesda LCL; GM11637
Accession CVCL_M301
Resource Identification Initiative To cite this cell line use: XP24BE LCL (RRID:CVCL_M301)
Comments Population: Caucasian; Hungarian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 12816; XPC; Simple; c.622-2A>G (IVS5.1-2A>G); ClinVar=VCV000550100; Zygosity=Heterozygous; Note=Splice acceptor mutation (PubMed=16081512).
  • Mutation; HGNC; 12816; XPC; Simple; p.Arg155Ter (c.463C>T); ClinVar=VCV000496268; Zygosity=Heterozygous (PubMed=16081512).
Disease Xeroderma pigmentosum, complementation group C (NCIt: C114770)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_M302 ! XP24BE
Sex of cell Female
Age at sampling 19Y
Category Transformed cell line
Publications

PubMed=16081512; DOI=10.1093/carcin/bgi204
Khan S.G., Oh K.-S., Shahlavi T., Ueda T., Busch D.B., Inui H., Emmert S., Imoto K., Muniz-Medina V., Baker C.C., DiGiovanna J.J., Schmidt D., Khadavi A., Metin A., Gozukara E.M., Slor H., Sarasin A., Kraemer K.H.
Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.
Carcinogenesis 27:84-94(2006)

Cross-references
Cell line collections (Providers) Coriell; GM11637
Cell line databases/resources CLO; CLO_0021323
Encyclopedic resources Wikidata; Q54845208
Entry history
Entry creation05-Nov-2013
Last entry update29-Jun-2023
Version number19