Cellosaurus logo
expasy logo

Cellosaurus GM00469 (CVCL_7285)

[Text version]
Cell line name GM00469
Synonyms GM 0469; GM-469; GM 469
Accession CVCL_7285
Resource Identification Initiative To cite this cell line use: GM00469 (RRID:CVCL_7285)
Comments Population: Caucasian.
Cell type: Fibroblast; CL=CL_0000057.
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 1Y
Category Finite cell line
Publications

DOI=10.5962/bhl.title.4090
Coriell L.L., Greene A.E.
The human genetic mutant cell repository: list of genetic variants, chromosomal aberrations and normal cell cultures submitted to the repository. 4th edition. October 1977.
(In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977)

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

PubMed=2567118
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) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992)

PubMed=1346349; DOI=10.1002/ajmg.1320420213
Hirschhorn R., Ellenbogen A., Tzall S.
Five missense mutations at the adenosine deaminase locus (ADA) detected by altered restriction fragments and their frequency in ADA -- patients with severe combined immunodeficiency (ADA-SCID).
Am. J. Med. Genet. 42:201-207(1992)

Cross-references
Cell line collections (Providers) Coriell; GM00469
Cell line databases/resources CLO; CLO_0003511
CLO; CLO_0025974
CLDB; cl1478
Encyclopedic resources Wikidata; Q54836244
Entry history
Entry creation04-Apr-2012
Last entry update29-Jun-2023
Version number15