ID   XP21BE LCL
AC   CVCL_M295
SY   Xeroderma Pigmentosum 21 BEthesda LCL; GM09942
DR   CLO; CLO_0029757
DR   Coriell; GM09942
DR   Wikidata; Q54844129
RX   CelloPub=CLPUB00447;
RX   PubMed=9804340;
RX   PubMed=18955168;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; p.Met1Arg (c.2T>G); ClinVar=VCV001066146; Zygosity=Homozygous (PubMed=18955168).
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_M296 ! XP21BE
SX   Female
AG   7Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 29-06-23; Version: 15
//
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   PubMed=9804340; DOI=10.1046/j.1523-1747.1998.00391.x;
RA   Khan S.G., Levy H.L., Legerski R.J., Quackenbush E., Reardon J.T.,
RA   Emmert S., Sancar A., Li L., Schneider T.D., Cleaver J.E.,
RA   Kraemer K.H.;
RT   "Xeroderma pigmentosum group C splice mutation associated with autism
RT   and hypoglycinemia.";
RL   J. Invest. Dermatol. 111:791-796(1998).
//
RX   PubMed=18955168; DOI=10.1016/j.dnarep.2008.09.007;
RA   Khan S.G., Oh K.-S., Emmert S., Imoto K., Tamura D., DiGiovanna J.J.,
RA   Shahlavi T., Armstrong N., Baker C.C., Neuburg M., Zalewski C.,
RA   Brewer C.C., Wiggs E., Schiffmann R., Kraemer K.H.;
RT   "XPC initiation codon mutation in xeroderma pigmentosum patients with
RT   and without neurological symptoms.";
RL   DNA Repair 8:114-125(2009).
//