Cellosaurus logo
expasy logo

Cellosaurus GM02446 (CVCL_D862)

[Text version]
Cell line name GM02446
Synonyms GM-2446; GM 2446
Accession CVCL_D862
Resource Identification Initiative To cite this cell line use: GM02446 (RRID:CVCL_D862)
Comments Population: Hispanic.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; 186; ADA; Simple; p.Arg211His (c.632G>A); ClinVar=VCV000001957; Zygosity=Homozygous (Coriell=GM02446).
Disease Adenosine deaminase deficiency (NCIt: C3962)
Severe combined immunodeficiency due to adenosine deaminase deficiency (ORDO: Orphanet_277)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling Age unspecified
Category Finite cell line
Publications

PubMed=7380831; DOI=10.1016/S0021-9258(19)70683-8
Daddona P.E., Frohman M.A., Kelley W.N.
Human adenosine deaminase and its binding protein in normal and adenosine deaminase-deficient fibroblast cell strains.
J. Biol. Chem. 255:5681-5687(1980)

CLPUB00447
Mulivor R.A., Suchy S.F.
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)

Cross-references
Cell line collections (Providers) Coriell; GM02446
Cell line databases/resources CLO; CLO_0033319
Biological sample resources BioSample; SAMN00807783
Encyclopedic resources Wikidata; Q54837498
Entry history
Entry creation22-Oct-2012
Last entry update30-Jan-2024
Version number18