ID   XP22BE LCL
AC   CVCL_M309
SY   Xeroderma Pigmentosum 22 BEthesda LCL; GM13817; GM17090
DR   CLO; CLO_0014523
DR   CLO; CLO_0033592
DR   BioSample; SAMN00802652
DR   Coriell; GM13817
DR   Coriell; GM17090
DR   Wikidata; Q54846816
RX   PubMed=9804340;
CC   Part of: Human variation panel.
CC   Population: Korean.
CC   Sequence variation: Mutation; HGNC; 12816; XPC; Simple; c.2033+2T>G (IVS9+2T>G); ClinVar=VCV000000257; Zygosity=Homozygous; Note=Splice donor mutation (Coriell=GM17090).
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_ZN55 ! XP22BE
SX   Male
AG   4Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 19
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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).
//