ID   XP14BR.2
AC   CVCL_F629
SY   Xeroderma Pigmentosum 14 BRighton 2; GM16092
DR   CLO; CLO_0018856
DR   Coriell; GM16092
DR   Wikidata; Q54848316
RX   PubMed=10766188;
RX   PubMed=16714754;
RX   PubMed=18079351;
CC   Population: Pakistani.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg718Ter (c.2152C>T); ClinVar=VCV000551486; Zygosity=Unspecified (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)
OI   CVCL_ZN23 ! XP14BR.1
SX   Female
AG   14-15Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 12
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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=16714754; DOI=10.1259/bjr/83726649;
RA   Arlett C.F., Plowman P.N., Rogers P.B., Parris C.N., Abbaszadeh F.,
RA   Green M.H.L., McMillan T.J., Bush C., Foray N., Lehmann A.R.;
RT   "Clinical and cellular ionizing radiation sensitivity in a patient
RT   with xeroderma pigmentosum.";
RL   Br. J. Radiol. 79:510-517(2006).
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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).
//