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Cellosaurus XP72TMA LCL (CVCL_1F37)

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Cell line name XP72TMA LCL
Synonyms Xeroderma Pigmentosum Turkey MAlatya 72 LCL; GM14876; GM14876A
Accession CVCL_1F37
Resource Identification Initiative To cite this cell line use: XP72TMA LCL (RRID:CVCL_1F37)
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.413-24A>G (IVS3-24A>G); ClinVar=VCV000000261; Zygosity=Homozygous (Coriell=GM14876).
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_1F38 ! XP72TMA
Sex of cell Female
Age at sampling 17Y
Category Transformed cell line
Publications

PubMed=14662655; DOI=10.1093/hmg/ddh026
Sikandar G. Khan, Ahmet Metin, Engin Mevlut Gozukara, Hiroki Inui, Tala Shahlavi, Vanessa Muniz-Medina, Carl C. Baker, Takahiro Ueda, Juliet R. Aiken, Thomas D. Schneider, Kenneth H. Kraemer;
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)

Cross-references
Cell line collections (Providers) Coriell; GM14876
Cell line databases/resources CLO; CLO_0032071
Encyclopedic resources Wikidata; Q54847488
Entry history
Entry creation08-Jul-2015
Last entry update19-Dec-2024
Version number15