ID   GM06201
AC   CVCL_N049
SY   GM 6201; GM06201A; GM17161
DR   CLO; CLO_0013982
DR   CLO; CLO_0023140
DR   Coriell; GM06201
DR   Coriell; GM17161
DR   GEO; GSM273428
DR   GEO; GSM569688
DR   GEO; GSM596226
DR   GEO; GSM597061
DR   GEO; GSM924671
DR   Wikidata; Q54842218
RX   CelloPub=CLPUB00447;
RX   PubMed=2567118;
RX   PubMed=16260726;
CC   Part of: Human variation panel.
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Arg76Trp (c.226C>T); ClinVar=VCV000001962; Zygosity=Heterozygous (Coriell=GM06201).
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   20Y
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).
//