Cellosaurus logo
expasy logo

Cellosaurus GM09276 (CVCL_IW08)

[Text][XML][JSON]
Cell line name GM09276
Accession CVCL_IW08
Resource Identification Initiative To cite this cell line use: GM09276 (RRID:CVCL_IW08)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2312; CPN1; Simple; p.Arg58Glufs (c.173dup) (c.172insG) (385fsinsG); ClinVar=VCV000006622; Zygosity=Heterozygous (Coriell=GM09276).
  • Mutation; HGNC; HGNC:2312; CPN1; Simple; p.Gly178Asp (c.533G>A); ClinVar=VCV000006623; Zygosity=Heterozygous (Coriell=GM09276).
Disease Carboxypeptidase N deficiency (NCIt: C132196)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 73Y
Category Transformed cell line
Publications

CLPUB00447
Richard A. Mulivor, Sharon F. Suchy;
1992/1993 catalog of cell lines. NIGMS human genetic mutant cell repository. 16th edition. October 1992.
(In misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992)

PubMed=12560874; DOI=10.1007/s100380300003
He-Nian Cao, Robert Alexander Hegele;
DNA polymorphism and mutations in CPN1, including the genomic basis of carboxypeptidase N deficiency.
J. Hum. Genet. 48:20-22(2003)

Cross-references
Cell line collections (Providers) Coriell; GM09276
Cell line databases/resources CLO; CLO_0012061
Encyclopedic resources Wikidata; Q54843640
Entry history
Entry creation03-Mar-2017
Last entry update19-Dec-2024
Version number13