ID   GM03043
AC   CVCL_D865
SY   GM-3043; GM 3043; GM17345
DR   CLO; CLO_0012623
DR   CLO; CLO_0013738
DR   BioSample; SAMN00808223
DR   Coriell; GM03043
DR   Coriell; GM17345
DR   Wikidata; Q54837833
RX   CelloPub=CLPUB00447;
RX   PubMed=2567118;
CC   Part of: Human variation panel.
CC   Population: African; !Kung.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Thr233Ile (c.698C>T); ClinVar=VCV000001980; Zygosity=Homozygous (Coriell=GM03043).
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)
OI   CVCL_D866 ! GM03029
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 20
//
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).
//