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Cellosaurus GM02434 (CVCL_GS55)

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Cell line name GM02434
Synonyms GM-2434; GM 2434; GM02434A
Accession CVCL_GS55
Resource Identification Initiative To cite this cell line use: GM02434 (RRID:CVCL_GS55)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Arg156Cys (c.466C>T); ClinVar=VCV000001970; Zygosity=Heterozygous (Coriell=GM02434).
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Leu304Arg (c.911T>G); ClinVar=VCV000001958; Zygosity=Heterozygous (Coriell=GM02434).
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)
Originate from same individual CVCL_GS58 ! GM02471
Sex of cell Male
Age at sampling 7M
Category Finite cell line
Publications

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

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)

Cross-references
Cell line collections (Providers) Coriell; GM02434
Cell line databases/resources CLO; CLO_0033277
Biological sample resources BioSample; SAMN00807771
Encyclopedic resources Wikidata; Q54837486
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number17