ID   GM02605
AC   CVCL_7360
SY   GM-2605; GM 2605
DR   CLO; CLO_0003526
DR   CLO; CLO_0032688
DR   CLDB; cl1493
DR   Coriell; GM02605
DR   Wikidata; Q54837571
RX   CelloPub=CLPUB00447;
RX   PubMed=7380831;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Arg101Trp (c.301C>T); ClinVar=VCV000001955; Zygosity=Heterozygous (Coriell=GM02605).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Arg211His (c.632G>A); ClinVar=VCV000001957; Zygosity=Heterozygous (Coriell=GM02605).
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)
OI   CVCL_D861 ! GM02606
SX   Male
AG   8M
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 20
//
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   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).
//