ID   GM05817
AC   CVCL_N040
SY   GM 5817; GM17159
DR   CLO; CLO_0013964
DR   CLO; CLO_0024681
DR   Coriell; GM05817
DR   Coriell; GM17159
DR   GEO; GSM273426
DR   GEO; GSM569655
DR   GEO; GSM596224
DR   GEO; GSM597024
DR   GEO; GSM924669
DR   IPD-IMGT/HLA; 15817
DR   Wikidata; Q54841955
RX   CelloPub=CLPUB00447;
RX   PubMed=2567118;
RX   PubMed=16260726;
RX   PubMed=20210923;
CC   Part of: Human variation panel.
CC   Population: African American.
CC   HLA typing: A*36:01,80:01; B*50:01,53:01; C*04:CVAF,06:02; DRB1*03:01,16:02 (IPD-IMGT/HLA=15817).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Arg76Trp (c.226C>T); ClinVar=VCV000001962; Zygosity=Heterozygous (Coriell=GM05817).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Omics: DNA methylation analysis.
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   24Y
CA   Transformed cell line
DT   Created: 05-11-13; Last updated: 30-01-24; Version: 19
//
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).
//
RX   PubMed=16260726; DOI=10.1073/pnas.0508390102;
RA   Harris S.L., Gil G., Robins H., Hu W.-W., Hirshfield K.M., Bond E.,
RA   Bond G., Levine A.J.;
RT   "Detection of functional single-nucleotide polymorphisms that affect
RT   apoptosis.";
RL   Proc. Natl. Acad. Sci. U.S.A. 102:16297-16302(2005).
//
RX   PubMed=20210923; DOI=10.1111/j.1399-0039.2010.01460.x;
RA   Hou L., Chen M., Jiang B., Ng J., Hurley C.K.;
RT   "African Americans exhibit a predominant allele in the midst of
RT   extensive KIR2DL1 allelic diversity.";
RL   Tissue Antigens 76:31-34(2010).
//