ID   GM02825
AC   CVCL_F082
SY   GM02825A; GM 2825A
DR   CLO; CLO_0012746
DR   BioSample; SAMN00808137
DR   Coriell; GM02825
DR   Wikidata; Q54837710
RX   CelloPub=CLPUB00447;
RX   PubMed=1346349;
RX   PubMed=1680289;
RX   PubMed=2567118;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Ala329Val (c.986C>T); ClinVar=VCV000001959; Zygosity=Heterozygous (PubMed=1346349).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; c.219-2A>G (IVS3-2A>G); ClinVar=VCV000001969; Zygosity=Heterozygous; Note=Splice acceptor mutation (Coriell=GM02825).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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_7365 ! GM02824
SX   Female
AG   4M
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 21
//
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 misc. document) Institute for Medical Research (Camden, N.J.) NIH 92-2011; pp.1-918; National Institutes of Health; Bethesda; USA (1992).
//
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=1680289; PMCID=PMC1683191;
RA   Hirschhorn R., Chakravarti V., Puck J., Douglas S.D.;
RT   "Homozygosity for a newly identified missense mutation in a patient
RT   with very severe combined immunodeficiency due to adenosine deaminase
RT   deficiency (ADA-SCID).";
RL   Am. J. Hum. Genet. 49:878-885(1991).
//
RX   PubMed=2567118; PMCID=PMC1715668;
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).
//