ID   GM02824
AC   CVCL_7365
DR   CLO; CLO_0003527
DR   CLO; CLO_0012748
DR   CLDB; cl1494
DR   BioSample; SAMN00808136
DR   Coriell; GM02824
DR   Wikidata; Q54837709
RX   CelloPub=CLPUB00447;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Ala329Val (c.986C>T); ClinVar=VCV000001959; Zygosity=Heterozygous (Coriell=GM02824).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; c.219-2A>G (IVS3-2A>G); ClinVar=VCV000001969; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM02824).
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_F082 ! GM02825
SX   Female
AG   4M
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 19
//
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).
//