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Cellosaurus XP12BESV (CVCL_F118)

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Cell line name XP12BESV
Synonyms XP12BE (SV40); GM04429; GM4429; GM4429A; GM04429E
Accession CVCL_F118
Resource Identification Initiative To cite this cell line use: XP12BESV (RRID:CVCL_F118)
Comments Population: Caucasian.
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:12814; XPA; Simple; c.507-1G>T (IVS3-1G>T); Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM04429).
  • Mutation; HGNC; HGNC:12814; XPA; Simple; p.Gln185His (c.555G>C); ClinVar=VCV000550646; Zygosity=Heterozygous; Note=Also produces mis-splicing (Coriell=GM04429).
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_F119 (XP12BE)
Sex of cell Female
Age at sampling 10Y
Category Transformed cell line
Publications

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

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
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
Christopher J. Jones, R. Stephen Lloyd, Richard Dean Wood;
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; GM04429
Cell line databases/resources CLO; CLO_0019690
Encyclopedic resources Wikidata; Q54838526
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number24