ID   UVsH-M
AC   CVCL_ZP06
DR   Wikidata; Q98134434
RX   PubMed=7264357;
RX   PubMed=15486090;
CC   Population: Japanese.
CC   Sequence variation: Mutation; HGNC; HGNC:3438; ERCC6; Simple; p.Arg77Ter (c.229C>T) (C308T); ClinVar=VCV000001708; Zygosity=Heterozygous (PubMed=15486090).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 19-12-24; Version: 7
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RX   PubMed=7264357; DOI=10.1111/1523-1747.ep12482447;
RA   Fujiwara Y., Ichihashi M., Kano Y., Goto K., Shimizu K.;
RT   "A new human photosensitive subject with a defect in the recovery of
RT   DNA synthesis after ultraviolet-light irradiation.";
RL   J. Invest. Dermatol. 77:256-263(1981).
//
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).
//