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Cellosaurus XP2YO(SV) (CVCL_3244)

[Text version]
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; 3436; ERCC4; Simple; p.Thr567Ala (c.1699A>G) (T556A); Zygosity=Heterozygous (from parent cell line).
  • Mutation; 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:
AmelogeninX
CSF1PO12
D5S81810,13
D7S82011,12
D13S3178,10
D16S53911
TH019
TPOX8
vWA13,17

Run an STR similarity search on this cell line
Publications

PubMed=1660831; DOI=10.1016/0378-1119(91)90328-9
Peterson C.A., Legerski R.J.
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
Yagi T., Tatsumi-Miyajima J., Sato M., Kraemer K.H., Takebe H.
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
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=9025096; DOI=10.1093/mutage/12.1.41
Yagi T., Wood R.D., Takebe H.
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
Zhu X.-D., Niedernhofer L.J., Kuster B., Mann M., Hoeijmakers J.H.J., de Lange T.
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 creation04-Apr-2012
Last entry update02-May-2024
Version number24