Cellosaurus logo
expasy logo

Cellosaurus GM04396 (CVCL_GS65)

[Text][XML][JSON]
Cell line name GM04396
Synonyms GM 4396
Accession CVCL_GS65
Resource Identification Initiative To cite this cell line use: GM04396 (RRID:CVCL_GS65)
Comments Population: Caucasian.
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.Leu107Pro (c.320T>C); ClinVar=VCV000001965; Zygosity=Heterozygous (Coriell=GM04396).
  • Mutation; HGNC; HGNC:186; ADA; Simple; p.Arg211Cys (c.631C>T); ClinVar=VCV000001966; Zygosity=Heterozygous (Coriell=GM04396).
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_GS64 ! GM04395
Sex of cell Male
Age at sampling 6M
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; GM04396
Cell line databases/resources CLO; CLO_0019704
Encyclopedic resources Wikidata; Q54838513
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number17