ID   UVs1KOSV
AC   CVCL_ZP08
DR   GEO; GSM3048738
DR   GEO; GSM3048739
DR   GEO; GSM3048740
DR   GEO; GSM3048741
DR   Wikidata; Q98134430
RX   PubMed=15486090;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg77Ter (c.229C>T) (C308T); ClinVar=VCV000001708; Zygosity=Homozygous (from parent cell line).
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40).
CC   Omics: Transcriptomics; Microarray.
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173106; UV-sensitive syndrome 1
DI   ORDO; Orphanet_178338; UV-sensitive syndrome
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_ZP07 ! UVs1KO
SX   Male
AG   8Y
CA   Transformed cell line
DT   Created: 02-07-20; Last updated: 10-04-25; Version: 8
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RX   PubMed=15486090; DOI=10.1073/pnas.0404587101; PMCID=PMC524447;
RA   Horibata K., Iwamoto Y., Kuraoka I., Jaspers N.G.J., Kurimasa A.,
RA   Oshimura M., Ichihashi M., Tanaka K.;
RT   "Complete absence of Cockayne syndrome group B gene product gives rise
RT   to UV-sensitive syndrome but not Cockayne syndrome.";
RL   Proc. Natl. Acad. Sci. U.S.A. 101:15410-15415(2004).
//