ID   XP22BE
AC   CVCL_ZN55
SY   Xeroderma Pigmentosum 22 BEthesda
DR   Wikidata; Q98135543
RX   PubMed=9804340;
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 (PubMed=9804340).
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)
OI   CVCL_M309 ! XP22BE LCL
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 02-07-20; Last updated: 29-06-23; Version: 7
//
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).
//