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 misc. document) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda; USA (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; 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) 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 creation | 04-Apr-2012 |
Last entry update | 29-Jun-2023 |
Version number | 15 |
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