Cellosaurus cell line XP12BESV (CVCL

Cellosaurus XP12BESV (CVCL_F118)

Cross-references
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 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)
Cell line collections (Providers)	Coriell; GM04429
Cell line databases/resources	CLO; CLO_0019690
Encyclopedic resources	Wikidata; Q54838526
Entry history
Entry creation	22-Oct-2012
Last entry update	19-Dec-2024
Version number	24