ID   GM11411
AC   CVCL_GS78
SY   GM 11411
DR   CLO; CLO_0020796
DR   Coriell; GM11411
DR   Wikidata; Q54845067
RX   PubMed=1346349;
RX   PubMed=1680289;
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; HGNC:186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Homozygous (PubMed=1346349; PubMed=1680289).
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)
SX   Male
AG   4M
CA   Transformed cell line
DT   Created: 26-09-16; Last updated: 19-12-24; Version: 13
//
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.M., 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).
//