ID   GM09276
AC   CVCL_IW08
DR   CLO; CLO_0012061
DR   Coriell; GM09276
DR   Wikidata; Q54843640
RX   CelloPub=CLPUB00447;
RX   PubMed=12560874;
CC   Sequence variation: Mutation; HGNC; HGNC:2312; CPN1; Simple; p.Arg58Glufs (c.173dup) (c.172insG) (385fsinsG); ClinVar=VCV000006622; Zygosity=Heterozygous (Coriell=GM09276).
CC   Sequence variation: Mutation; HGNC; HGNC:2312; CPN1; Simple; p.Gly178Asp (c.533G>A); ClinVar=VCV000006623; Zygosity=Heterozygous (Coriell=GM09276).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C132196; Carboxypeptidase N deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   73Y
CA   Transformed cell line
DT   Created: 03-03-17; Last updated: 19-12-24; Version: 13
//
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).
//
RX   PubMed=12560874; DOI=10.1007/s100380300003;
RA   Cao H.-N., Hegele R.A.;
RT   "DNA polymorphism and mutations in CPN1, including the genomic basis
RT   of carboxypeptidase N deficiency.";
RL   J. Hum. Genet. 48:20-22(2003).
//