ID   GM01390
AC   CVCL_8517
SY   GM-1390; GM 1390
DR   CLO; CLO_0030813
DR   BioSample; SAMN00803848
DR   Coriell; GM01390
DR   Wikidata; Q54836799
RX   CelloPub=CLPUB00447;
RX   DOI=10.5962/bhl.title.4090;
RX   PubMed=1346349;
RX   PubMed=1680289;
RX   PubMed=2567118;
RX   PubMed=18691744;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Heterozygous (PubMed=1346349; PubMed=1680289).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; c.1050_1054delGAAGA; Zygosity=Heterozygous (Coriell=GM01390).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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)
SX   Male
AG   3M
CA   Finite cell line
DT   Created: 04-04-12; Last updated: 30-01-24; Version: 21
//
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   DOI=10.5962/bhl.title.4090;
RA   Coriell L.L., Greene A.E.;
RT   "The human genetic mutant cell repository: list of genetic variants,
RT   chromosomal aberrations and normal cell cultures submitted to the
RT   repository. 4th edition. October 1977.";
RL   (In) Institute for Medical Research (Camden, N.J.); pp.1-171; National Institutes of Health; Bethesda (1977).
//
RX   PubMed=1346349; DOI=10.1002/ajmg.1320420213;
RA   Hirschhorn R., Ellenbogen A., Tzall S.;
RT   "Five missense mutations at the adenosine deaminase locus (ADA)
RT   detected by altered restriction fragments and their frequency in
RT   ADA -- patients with severe combined immunodeficiency (ADA-SCID).";
RL   Am. J. Med. Genet. 42:201-207(1992).
//
RX   PubMed=1680289;
RA   Hirschhorn R., Chakravarti V., Puck J., Douglas S.D.;
RT   "Homozygosity for a newly identified missense mutation in a patient
RT   with very severe combined immunodeficiency due to adenosine deaminase
RT   deficiency (ADA-SCID).";
RL   Am. J. Hum. Genet. 49:878-885(1991).
//
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=18691744; DOI=10.1016/j.cell.2008.07.041;
RA   Park I.-H., Arora N., Huo H.-G., Maherali N., Ahfeldt T., Shimamura A.,
RA   Lensch M.W., Cowan C.A., Hochedlinger K., Daley G.Q.;
RT   "Disease-specific induced pluripotent stem cells.";
RL   Cell 134:877-886(2008).
//