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Cellosaurus XP100TMA LCL (CVCL_1F46)

[Text version]
Cell line name XP100TMA LCL
Synonyms Xeroderma Pigmentosum Turkey MAlatya 100 LCL; GM15710
Accession CVCL_1F46
Resource Identification Initiative To cite this cell line use: XP100TMA LCL (RRID:CVCL_1F46)
Comments Population: Turkish.
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.413-9T>A (IVS3-9T>A); ClinVar=VCV000000260; Zygosity=Homozygous (Coriell=GM15710).
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_1F45 ! XP100TMA
Sex of cell Male
Age at sampling 14Y
Category Transformed cell line
Publications

PubMed=14662655; DOI=10.1093/hmg/ddh026
Khan S.G., Metin A., Gozukara E.M., Inui H., Shahlavi T., Muniz-Medina V., Baker C.C., Ueda T., Aiken J.R., Schneider T.D., Kraemer K.H.
Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.
Hum. Mol. Genet. 13:343-352(2004)

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; GM15710
Cell line databases/resources CLO; CLO_0027670
Encyclopedic resources Wikidata; Q54848148
Entry history
Entry creation08-Jul-2015
Last entry update30-Jan-2024
Version number15