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Cellosaurus GM02294 (CVCL_CZ84)

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Cell line name GM02294
Synonyms GM 2294
Accession CVCL_CZ84
Resource Identification Initiative To cite this cell line use: GM02294 (RRID:CVCL_CZ84)
Comments Population: African American.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Ala215Thr (c.643G>A); ClinVar=VCV000001967; Zygosity=Homozygous (Coriell=GM02294).
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_CZ12 ! GM01997
Sex of cell Male
Age at sampling 10M
Category Transformed cell line
Publications

PubMed=2567118; PMCID=PMC1715668
Stephanie Tzall, Amy Ellenbogen, Fay Eng, Rochelle Hirschhorn;
Identification and characterization of nine RFLPs at the adenosine deaminase (ADA) locus.
Am. J. Hum. Genet. 44:864-875(1989)

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; GM02294
Cell line databases/resources CLO; CLO_0032206
Biological sample resources BioSample; SAMN00807662
Encyclopedic resources Wikidata; Q54837410
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number16