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Cellosaurus XPH102TMA LCL (CVCL_1F52)

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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
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)

PubMed=16081512; DOI=10.1093/carcin/bgi204
Sikandar G. Khan, Kyu-Seon Oh, Tala Shahlavi, Takahiro Ueda, David B. Busch, Hiroki Inui, Steffen Emmert, Kyoko Imoto, Vanessa Muniz-Medina, Carl C. Baker, John Joseph DiGiovanna ...Show all 18 authors... , Deborah Schmidt, Arash Khadavi, Ahmet Metin, Engin Mevlut Gozukara, Hanoch Slor, Alain Sarasin, Kenneth H. Kraemer; Show fewer authors
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