ID   XP23BE LCL
AC   CVCL_X829
SY   Xeroderma Pigmentosum 23 BEthesda LCL; AG10033
DR   CLO; CLO_0021881
DR   Coriell; AG10033
DR   Wikidata; Q54743198
RX   CelloPub=CLPUB00597;
RX   PubMed=18368133;
CC   Population: Native North American.
CC   Sequence variation: Mutation; HGNC; HGNC:12816; XPC; Simple; c.622-2A>C (IVS5.1-2A>C); ClinVar=VCV000190209; Zygosity=Homozygous; Note=Splice acceptor mutation (Coriell=AG10033).
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_X828 ! XP23BE
SX   Male
AG   21Y4M
CA   Transformed cell line
DT   Created: 05-09-14; Last updated: 19-12-24; Version: 16
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RX   CelloPub=CLPUB00597;
RG   National Institute on Aging;
RT   "1994 catalog of cell lines. NIA Aging Cell Repository.";
RL   (In misc. document) Institute for Medical Research (Camden, N.J.); pp.1-351; National Institutes of Health; Bethesda; USA (1994).
//
RX   PubMed=18368133; DOI=10.1038/jid.2008.48; PMCID=PMC2562952;
RA   Inui H., Oh K.-S., Nadem C., Ueda T., Khan S.G., Metin A., Gozukara E.M.,
RA   Emmert S., Slor H., Busch D.B., Baker C.C., DiGiovanna J.J.,
RA   Tamura D., Seitz C.S., Gratchev A., Wu W.-H., Chung K.Y., Chung H.J.,
RA   Azizi E., Woodgate R., Schneider T.D., Kraemer K.H.;
RT   "Xeroderma pigmentosum-variant patients from America, Europe, and
RT   Asia.";
RL   J. Invest. Dermatol. 128:2055-2068(2008).
//