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Cellosaurus XPH102TMA LCL (CVCL_1F52)

[Text version]
Cell line name XPH102TMA LCL
Synonyms Xeroderma Pigmentosum Heterozygote 102 Turkey MAlatya LCL; GM15718
Accession CVCL_1F52
Resource Identification Initiative To cite this cell line use: XPH102TMA LCL (RRID:CVCL_1F52)
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; HGNC:12816; XPC; Simple; c.413-9T>A (IVS3-9T>A); ClinVar=VCV000000260; Zygosity=Heterozygous (Coriell=GM15718).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_1F51 ! XPH102TMA
Sex of cell Female
Age at sampling Adult
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; GM15718
Cell line databases/resources CLO; CLO_0027678
Encyclopedic resources Wikidata; Q54848154
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number16