ID   XP2OS(SV)
AC   CVCL_3242
SY   XP2OS (SV); XP2OS-SV; XP20S-SV40; XP20s(SV40)
DR   JCRB; JCRB0301
DR   JCRB; KURB1008
DR   Wikidata; Q54994913
RX   PubMed=2039995;
RX   PubMed=7000335;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; 12814; XPA; Simple; c.390-1G>C (IVS3-1G>C); ClinVar=VCV000264684; Zygosity=Homozygous; Note=Splice acceptor mutation (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Caution: Could be identical to GM04312 (Cellosaurus=CVCL_ZN80).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
ST   Source(s): JCRB=JCRB0301
ST   Amelogenin: X
ST   CSF1PO: 10,11
ST   D13S317: 9
ST   D16S539: 12
ST   D5S818: 11
ST   D7S820: 8,12
ST   TH01: 9
ST   TPOX: 11
ST   vWA: 14,16
DI   NCIt; C3965; Xeroderma pigmentosum, complementation group A
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_F510 ! XP2OS
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 04-04-12; Last updated: 02-05-24; Version: 20
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RX   PubMed=2039995;
RA   Yagi T., Tatsumi-Miyajima J., Sato M., Kraemer K.H., Takebe H.;
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).
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RX   PubMed=7000335; DOI=10.1016/0304-3835(80)90072-5;
RA   Ishizaki K., Yagi T., Takebe H.;
RT   "Cytotoxic effects of protease inhibitors on human cells. 1. High
RT   sensitivity of xeroderma pigmentosum cells to antipain.";
RL   Cancer Lett. 10:199-205(1980).
//