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Cellosaurus GM15877 (CVCL_F508)

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Cell line name GM15877
Synonyms D6BE-ER2-9; XP6BE-ER2-9; XP6BE ER2-9
Accession CVCL_F508
Resource Identification Initiative To cite this cell line use: GM15877 (RRID:CVCL_F508)
Comments Population: Caucasian.
Characteristics: Transfection of wild type ERCC2 corrects the defects of this gene in the cell line.
Genetic integration: Method=Transfection/transduction; Gene=HGNC; HGNC:3434; ERCC2.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3434; ERCC2; Simple; p.Gly36_Arg61del; Zygosity=Heterozygous (from parent cell line).
Disease Xeroderma pigmentosum, complementation group D (NCIt: C3967)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F505 (XP6BE(SV))
Sex of cell Female
Age at sampling 19Y
Category Transformed cell line
Publications

PubMed=8033104
Engin Mevlut Gozukara, Christopher N. Parris, Christine A. Weber, Edmund P. Salazar, Michael M. Seidman, John Frederick Watkins, Louise Prakash, Kenneth H. Kraemer;
The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersensitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells.
Cancer Res. 54:3837-3844(1994)

PubMed=18470933; DOI=10.1002/humu.20768; PMCID=PMC3477783
Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, Kyoko Imoto, Deborah Tamura, Jared Jagdeo, Sikandar G. Khan, Carine Nadem, John Joseph DiGiovanna, Kenneth H. Kraemer;
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Hum. Mutat. 29:1194-1208(2008)

Cross-references
Cell line collections (Providers) Coriell; GM15877
Cell line databases/resources CLO; CLO_0018646
Encyclopedic resources Wikidata; Q54848249
Entry history
Entry creation11-Feb-2013
Last entry update10-Apr-2025
Version number19