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Cellosaurus GM02824 (CVCL_7365)

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Cell line name GM02824
Accession CVCL_7365
Resource Identification Initiative To cite this cell line use: GM02824 (RRID:CVCL_7365)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
Sequence variations
  • Mutation; HGNC; HGNC:186; ADA; Simple; c.219-2A>G (IVS3-2A>G); ClinVar=VCV000001969; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM02824).
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Ala329Val (c.986C>T); ClinVar=VCV000001959; Zygosity=Heterozygous (Coriell=GM02824).
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_F082 ! GM02825
Sex of cell Female
Age at sampling 4M
Category Finite 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)

Cross-references
Cell line collections (Providers) Coriell; GM02824
Cell line databases/resources CLO; CLO_0003527
CLO; CLO_0012748
CLDB; cl1494
Biological sample resources BioSample; SAMN00808136
Encyclopedic resources Wikidata; Q54837709
Entry history
Entry creation04-Apr-2012
Last entry update10-Apr-2025
Version number21