ID   XP4BR
AC   CVCL_WX46
SY   Xeroderma Pigmentosum 4 BRighton
DR   Wikidata; Q98135855
RX   PubMed=3347209;
RX   PubMed=4066782;
RX   PubMed=7471106;
RX   PubMed=10766188;
RX   PubMed=18079351;
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Ser225Glnfs*45 (c.671insT); Zygosity=Homozygous (PubMed=10766188).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   13Y
CA   Finite cell line
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 8
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RX   PubMed=3347209; DOI=10.1016/0167-8817(88)90048-x;
RA   Squires S., Johnson R.T.;
RT   "Kinetic analysis of UV-induced incision discriminates between
RT   fibroblasts from different xeroderma pigmentosum complementation
RT   groups, XPA heterozygotes and normal individuals.";
RL   Mutat. Res. 193:181-192(1988).
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RX   PubMed=4066782; DOI=10.1242/jcs.76.1.115;
RA   Johnson R.T., Squires S., Elliott G.C., Koch G.L.E., Rainbow A.J.;
RT   "Xeroderma pigmentosum D-HeLa hybrids with low and high ultraviolet
RT   sensitivity associated with normal and diminished DNA repair ability,
RT   respectively.";
RL   J. Cell Sci. 76:115-133(1985).
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RX   PubMed=7471106;
RA   Arlett C.F., Harcourt S.A.;
RT   "Survey of radiosensitivity in a variety of human cell strains.";
RL   Cancer Res. 40:926-932(1980).
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RX   PubMed=10766188;
RA   Chavanne F., Broughton B.C., Pietra D., Nardo T., Browitt A.,
RA   Lehmann A.R., Stefanini M.;
RT   "Mutations in the XPC gene in families with xeroderma pigmentosum and
RT   consequences at the cell, protein, and transcript levels.";
RL   Cancer Res. 60:1974-1982(2000).
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RX   PubMed=18079351; DOI=10.1259/bjr/27072321;
RA   Arlett C.F., Green M.H.L., Rogers P.B., Lehmann A.R., Plowman P.N.;
RT   "Minimal ionizing radiation sensitivity in a large cohort of xeroderma
RT   pigmentosum fibroblasts.";
RL   Br. J. Radiol. 81:51-58(2008).
//