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Cellosaurus XP132BE LCL (CVCL_M318)

[Text version]
Cell line name XP132BE LCL
Synonyms Xeroderma Pigmentosum 132 BEthesda LCL; GM16692
Accession CVCL_M318
Resource Identification Initiative To cite this cell line use: XP132BE LCL (RRID:CVCL_M318)
Comments Population: Honduran.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:12816; XPC; Simple; p.Val548Alafs*25 (c.1639_1640TG[2]) (c.1643_1644delTG) (1744_1745delTG); ClinVar=VCV000000262; Zygosity=Heterozygous (Coriell=GM16692).
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_M319 ! XP132BE
Sex of cell Male
Age at sampling 8Y
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; GM16692
Cell line databases/resources CLO; CLO_0018455
Encyclopedic resources Wikidata; Q54848707
Entry history
Entry creation05-Nov-2013
Last entry update19-Dec-2024
Version number19