Cellosaurus logo
expasy logo

Cellosaurus GM06142 (CVCL_GS70)

[Text version]
Cell line name GM06142
Synonyms GM 6142
Accession CVCL_GS70
Resource Identification Initiative To cite this cell line use: GM06142 (RRID:CVCL_GS70)
Comments 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.Pro297Gln (c.890C>A); ClinVar=VCV000001961; Zygosity=Homozygous (Coriell=GM06142).
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 Male
Age at sampling 7M
Category Transformed cell line
Publications

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

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; GM06142
Cell line databases/resources CLO; CLO_0023566
Encyclopedic resources Wikidata; Q54842192
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number14