ID   GM04396
AC   CVCL_GS65
SY   GM 4396
DR   CLO; CLO_0019704
DR   Coriell; GM04396
DR   Wikidata; Q54838513
RX   CelloPub=CLPUB00447;
RX   PubMed=2567118;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Leu107Pro (c.320T>C); ClinVar=VCV000001965; Zygosity=Heterozygous (Coriell=GM04396).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Arg211Cys (c.631C>T); ClinVar=VCV000001966; Zygosity=Heterozygous (Coriell=GM04396).
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_GS64 ! GM04395
SX   Male
AG   6M
CA   Transformed 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=2567118;
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).
//