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Cellosaurus GM15877 (CVCL_F508)

[Text version]
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 wildtype ERCC2 corrects the defects of this gene in the cell line.
Genetic integration: Method=Transfection/transduction; Gene=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; 3434; ERCC2; Simple; p.Gly36_Arg61del; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; 3434; ERCC2; Simple; p.Arg683Trp (c.2047C>T); ClinVar=VCV000016793; 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
Gozukara E.M., Parris C.N., Weber C.A., Salazar E.P., Seidman M.M., Watkins J.F., Prakash L., Kraemer K.H.
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
Boyle J., Ueda T., Oh K.-S., Imoto K., Tamura D., Jagdeo J., Khan S.G., Nadem C., DiGiovanna J.J., Kraemer K.H.
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-Sep-2024
Version number17