ID   XP14BRneo17
AC   CVCL_F630
SY   GM16093
DR   CLO; CLO_0018854
DR   Coriell; GM16093
DR   Wikidata; Q54848317
RX   PubMed=16714754;
CC   Population: Pakistani.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; p.Arg718Ter (c.2152C>T); ClinVar=VCV000551486; Zygosity=Unspecified (from parent cell line).
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P03070; SV40 large T antigen.
CC   Genetic integration: Method=Transfection; Gene=UniProtKB; P00552; Transposon Tn5 neo.
CC   Transformant: NCBI_TaxID; 1891767; Simian virus 40 (SV40) (Note=pSV3-neo).
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)
HI   CVCL_F629 ! XP14BR.2
SX   Female
AG   14-15Y
CA   Finite cell line
DT   Created: 11-02-13; Last updated: 19-12-24; Version: 16
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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).
//