Cell line name |
XP2YO(SV) |
Synonyms |
XP2YO-SV; GM08437; GM08437A; GM08437B |
Accession |
CVCL_3244 |
Resource Identification Initiative |
To cite this cell line use: XP2YO(SV) (RRID:CVCL_3244) |
Comments |
Population: Japanese. 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:3436; ERCC4; Simple; p.Thr567Ala (c.1699A>G) (T556A); Zygosity=Heterozygous (from parent cell line).
- Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Val657Glufs*28 (c.1971delT); Zygosity=Heterozygous (from parent cell line).
|
Disease |
Xeroderma pigmentosum, complementation group F (NCIt: C3968) Xeroderma pigmentosum (ORDO: Orphanet_910) |
Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
Hierarchy |
Parent: CVCL_F598 (XP2YO) |
Sex of cell |
Female |
Age at sampling |
64Y |
Category |
Transformed cell line |
STR profile |
Source(s): JCRB=JCRB0302
Markers: Run an STR similarity search on this cell line |
Publications | PubMed=1660831; DOI=10.1016/0378-1119(91)90328-9 Carolyn A. Peterson, Randy J. Legerski; High-frequency transformation of human repair-deficient cell lines by an Epstein-Barr virus-based cDNA expression vector. Gene 107:279-284(1991) PubMed=2039995 Takashi Yagi, Junko Tatsumi-Miyajima, Mayumi Sato, Kenneth H. Kraemer, Hiraku Takebe; Analysis of point mutations in an ultraviolet-irradiated shuttle vector plasmid propagated in cells from Japanese xeroderma pigmentosum patients in complementation groups A and F. Cancer Res. 51:3177-3182(1991) 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=9025096; DOI=10.1093/mutage/12.1.41 Takashi Yagi, Richard Dean Wood, Hiraku Takebe; A low content of ERCC1 and a 120 kDa protein is a frequent feature of group F xeroderma pigmentosum fibroblast cells. Mutagenesis 12:41-44(1997) PubMed=14690602; DOI=10.1016/S1097-2765(03)00478-7 Xu-Dong Zhu, Laura J. Niedernhofer, Bernhard Kuster, Matthias Mann, Jan Hendrik Jozef Hoeijmakers, Titia de Lange; ERCC1/XPF removes the 3' overhang from uncapped telomeres and represses formation of telomeric DNA-containing double minute chromosomes. Mol. Cell 12:1489-1498(2003) |
Cross-references |
Cell line collections (Providers) |
Coriell; GM08437
JCRB; JCRB0302
JCRB; KURB1094
JCRB; KURB1095
|
Cell line databases/resources |
CLO; CLO_0010546
|
Biological sample resources |
BioSample; SAMN00798066
BioSample; SAMN03471615
|
Encyclopedic resources |
Wikidata; Q54994916
|
Entry history |
Entry creation | 04-Apr-2012 |
Last entry update | 19-Dec-2024 |
Version number | 25 |
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