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Cellosaurus XP101TMA LCL (CVCL_1F50)

[Text version]
Cell line name XP101TMA LCL
Synonyms Xeroderma Pigmentosum Turkey MAlatya 101 LCL; GM15716
Accession CVCL_1F50
Resource Identification Initiative To cite this cell line use: XP101TMA LCL (RRID:CVCL_1F50)
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=GM15716).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1F49 ! XP101TMA
Sex of cell Female
Age at sampling 10Y
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; GM15716
Cell line databases/resources CLO; CLO_0027676
Encyclopedic resources Wikidata; Q54848152
Entry history
Entry creation08-Jul-2015
Last entry update30-Jan-2024
Version number15