ID   GM02434
AC   CVCL_GS55
SY   GM-2434; GM 2434; GM02434A
DR   CLO; CLO_0033277
DR   BioSample; SAMN00807771
DR   Coriell; GM02434
DR   Wikidata; Q54837486
RX   CelloPub=CLPUB00447;
RX   PubMed=7380831;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Arg156Cys (c.466C>T); ClinVar=VCV000001970; Zygosity=Heterozygous (Coriell=GM02434).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Leu304Arg (c.911T>G); ClinVar=VCV000001958; Zygosity=Heterozygous (Coriell=GM02434).
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_GS58 ! GM02471
SX   Male
AG   7M
CA   Finite cell line
DT   Created: 26-09-16; Last updated: 30-01-24; Version: 16
//
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).
//