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Cellosaurus XP2OS SV40-transformed (CVCL_ZN80)

[Text version]
Cell line name XP2OS SV40-transformed
Synonyms XP2OS (SV40); GM04312; GM4312; GM04312A; GM4312A; GM04312B
Accession CVCL_ZN80
Resource Identification Initiative To cite this cell line use: XP2OS SV40-transformed (RRID:CVCL_ZN80)
Comments Population: Japanese.
Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
Caution: Could be identical to XP2OS(SV) (Cellosaurus=CVCL_3242).
Misspelling: XP20S (SV40); PubMed=6684957.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (Coriell=GM04312).
Disease Xeroderma pigmentosum, complementation group A (NCIt: C3965)
Xeroderma pigmentosum (ORDO: Orphanet_910)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F510 (XP2OS)
Children:
CVCL_F509 (GM15876)
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Publications

PubMed=6684957; DOI=10.1007/BF01172877
Kuhnlein U., Tsang S.S., Lokken O., Tong S., Twa D.
Cell lines from xeroderma pigmentosum complementation group A lack a single-stranded-DNA-binding activity.
Biosci. Rep. 3:667-674(1983)

CLPUB00447
Mulivor R.A., Suchy S.F.
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=7519740; DOI=10.1016/0165-7992(94)90014-0
Jones C.J., Lloyd R.S., Wood R.D.
Analysis of cells harboring a putative DNA repair gene reveals a lack of evidence for a second independent xeroderma pigmentosum group A correcting gene.
Mutat. Res. 324:159-164(1994)

Cross-references
Cell line collections (Providers) Coriell; GM04312
Cell line databases/resources CLO; CLO_0019549
Encyclopedic resources Wikidata; Q98135659
Entry history
Entry creation02-Jul-2020
Last entry update02-May-2024
Version number10