ID   GM00469
AC   CVCL_7285
SY   GM 0469; GM-469; GM 469
DR   CLO; CLO_0003511
DR   CLO; CLO_0025974
DR   CLDB; cl1478
DR   Coriell; GM00469
DR   Wikidata; Q54836244
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1346349;
RX   PubMed=2567118;
RX   PubMed=7380831;
CC   Population: Caucasian.
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C3962; Adenosine deaminase deficiency
DI   ORDO; Orphanet_277; Severe combined immunodeficiency due to adenosine deaminase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   1Y
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 29-06-23; Version: 15
//
RX   CelloPub=CLPUB00447;
RA   Mulivor R.A., Suchy S.F.;
RT   "1992/1993 catalog of cell lines. NIGMS human genetic mutant cell
RT   repository. 16th edition. October 1992.";
RL   (In) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda (1992).
//
RX   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=1346349; DOI=10.1002/ajmg.1320420213;
RA   Hirschhorn R., Ellenbogen A., Tzall S.;
RT   "Five missense mutations at the adenosine deaminase locus (ADA)
RT   detected by altered restriction fragments and their frequency in
RT   ADA -- patients with severe combined immunodeficiency (ADA-SCID).";
RL   Am. J. Med. Genet. 42:201-207(1992).
//
RX   PubMed=2567118;
RA   Tzall S., Ellenbogen A., Eng F., Hirschhorn R.;
RT   "Identification and characterization of nine RFLPs at the adenosine
RT   deaminase (ADA) locus.";
RL   Am. J. Hum. Genet. 44:864-875(1989).
//
RX   PubMed=7380831; DOI=10.1016/S0021-9258(19)70683-8;
RA   Daddona P.E., Frohman M.A., Kelley W.N.;
RT   "Human adenosine deaminase and its binding protein in normal and
RT   adenosine deaminase-deficient fibroblast cell strains.";
RL   J. Biol. Chem. 255:5681-5687(1980).
//