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Cellosaurus XPG415A (CVCL_ZQ16)

[Text version]
Cell line name XPG415A
Accession CVCL_ZQ16
Resource Identification Initiative To cite this cell line use: XPG415A (RRID:CVCL_ZQ16)
Comments Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSVori-).
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Arg372Thrfs*5 (c.1115_1118delGGAA); ClinVar=VCV000016574; Zygosity=Heterozygous (from parent cell line).
  • Mutation; HGNC; HGNC:3437; ERCC5; Simple; p.Leu858Pro (c.2573T>C); ClinVar=VCV000016573; Zygosity=Heterozygous (from parent cell line).
Disease Xeroderma pigmentosum, complementation group G (NCIt: C3969)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_M223 (XP2BI)
Sex of cell Female
Age at sampling 17Y
Category Transformed cell line
Publications

PubMed=3010096; DOI=10.1016/0167-8817(86)90052-0
Barbis D.P., Schultz R.A., Friedberg E.C.
Isolation and partial characterization of virus-transformed cell lines representing the A, G and variant complementation groups of xeroderma pigmentosum.
Mutat. Res. 165:175-184(1986)

Cross-references
Encyclopedic resources Wikidata; Q98136304
Entry history
Entry creation02-Jul-2020
Last entry update19-Dec-2024
Version number10