ID   GM11412
AC   CVCL_DB79
SY   GM 11412
DR   CLO; CLO_0020795
DR   Coriell; GM11412
DR   Wikidata; Q54845068
RX   PubMed=1680289;
CC   Population: Caucasian; Amish.
CC   Sequence variation: Mutation; HGNC; HGNC:186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Heterozygous (PubMed=1680289).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Transformed cell line
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 14
//
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).
//