ID   GM01997
AC   CVCL_CZ12
SY   GM-1997
DR   CLO; CLO_0032285
DR   BioSample; SAMN00807364
DR   Coriell; GM01997
DR   Wikidata; Q54837222
RX   CelloPub=CLPUB00447;
CC   Population: African American.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Ala215Thr (c.643G>A); ClinVar=VCV000001967; Zygosity=Homozygous (Coriell=GM01997).
CC   Cell type: Fibroblast; CL=CL_0000057.
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_CZ84 ! GM02294
SX   Male
AG   4M
CA   Finite cell line
DT   Created: 13-07-16; Last updated: 30-01-24; Version: 13
//
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).
//