ID   XP9BE LCL
AC   CVCL_F490
SY   Xeroderma Pigmentosum 9 BEthesda LCL; GM02498; GM 2498; GM2498; GM02498B
DR   CLO; CLO_0033233
DR   Coriell; GM02498
DR   Wikidata; Q54837522
RX   CelloPub=CLPUB00447;
RX   PubMed=6096450;
RX   PubMed=7519740;
RX   PubMed=16990803;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Val696_Val697insVal (c.2092_2093insGTG); Zygosity=Homozygous (from autologous cell line XP9BE).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C114770; Xeroderma pigmentosum, complementation group C
DI   ORDO; Orphanet_910; Xeroderma pigmentosum
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_F489 ! XP9BE
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 11-02-13; Last updated: 29-06-23; Version: 17
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RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
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RX   PubMed=6096450; DOI=10.1111/1523-1747.ep12260999;
RA   Otsuka F., Tarone R.E., Cayeux S., Robbins J.H.;
RT   "Use of lymphoblastoid cell lines to evaluate the hypersensitivity to
RT   ultraviolet radiation in Cockayne syndrome.";
RL   J. Invest. Dermatol. 82:480-484(1984).
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RX   PubMed=7519740; DOI=10.1016/0165-7992(94)90014-0;
RA   Jones C.J., Lloyd R.S., Wood R.D.;
RT   "Analysis of cells harboring a putative DNA repair gene reveals a lack
RT   of evidence for a second independent xeroderma pigmentosum group A
RT   correcting gene.";
RL   Mutat. Res. 324:159-164(1994).
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RX   PubMed=16990803; DOI=10.1038/sj.jid.5700555; PMCID=PMC3031115;
RA   Cleaver J.E., Feeney L., Tang J.Y., Tuttle P.;
RT   "Xeroderma pigmentosum group C in an isolated region of Guatemala.";
RL   J. Invest. Dermatol. 127:493-496(2007).
//