ID   XP2YO(SV)
AC   CVCL_3244
SY   XP2YO-SV; GM08437; GM08437A; GM08437B
DR   CLO; CLO_0010546
DR   BioSample; SAMN00798066
DR   BioSample; SAMN03471615
DR   Coriell; GM08437
DR   JCRB; JCRB0302
DR   JCRB; KURB1094
DR   JCRB; KURB1095
DR   Wikidata; Q54994916
RX   CelloPub=CLPUB00447;
RX   PubMed=1660831;
RX   PubMed=2039995;
RX   PubMed=9025096;
RX   PubMed=14690602;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Thr567Ala (c.1699A>G) (T556A); Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; HGNC:3436; ERCC4; Simple; p.Val657Glufs*28 (c.1971delT); Zygosity=Heterozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0302
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D13S317: 8,10
ST   D16S539: 11
ST   D5S818: 10,13
ST   D7S820: 11,12
ST   TH01: 9
ST   TPOX: 8
ST   vWA: 13,17
DI   NCIt; C3968; Xeroderma pigmentosum, complementation group F
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F598 ! XP2YO
SX   Female
AG   64Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 19-12-24; Version: 25
//
RX   PubMed=1660831; DOI=10.1016/0378-1119(91)90328-9;
RA   Peterson, Carolyn A.
RA   Legerski, Randy J.
RT   "High-frequency transformation of human repair-deficient cell lines by
RT   an Epstein-Barr virus-based cDNA expression vector.";
RL   Gene 107:279-284(1991).
//
RX   PubMed=2039995;
RA   Yagi, Takashi
RA   Tatsumi-Miyajima, Junko
RA   Sato, Mayumi
RA   Kraemer, Kenneth H.
RA   Takebe, Hiraku
RT   "Analysis of point mutations in an ultraviolet-irradiated shuttle
RT   vector plasmid propagated in cells from Japanese xeroderma pigmentosum
RT   patients in complementation groups A and F.";
RL   Cancer Res. 51:3177-3182(1991).
//
RX   PubMed=9025096; DOI=10.1093/mutage/12.1.41;
RA   Yagi, Takashi
RA   Wood, Richard Dean
RA   Takebe, Hiraku
RT   "A low content of ERCC1 and a 120 kDa protein is a frequent feature of
RT   group F xeroderma pigmentosum fibroblast cells.";
RL   Mutagenesis 12:41-44(1997).
//
RX   CelloPub=CLPUB00447;
RA   Mulivor, Richard A.
RA   Suchy, Sharon F.
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
RX   PubMed=14690602; DOI=10.1016/S1097-2765(03)00478-7;
RA   Zhu, Xu-Dong
RA   Niedernhofer, Laura J.
RA   Kuster, Bernhard
RA   Mann, Matthias
RA   Hoeijmakers, Jan Hendrik Jozef
RA   de Lange, Titia
RT   "ERCC1/XPF removes the 3' overhang from uncapped telomeres and
RT   represses formation of telomeric DNA-containing double minute
RT   chromosomes.";
RL   Mol. Cell 12:1489-1498(2003).
//