ID   GM23232
AC   CVCL_F191
SY   GM23232*A
DR   BioSample; SAMN00806683
DR   Coriell; GM23232
DR   SKIP; SKIP000184
DR   SKIP; SKIP004348
DR   Wikidata; Q54852925
RX   PubMed=23665875;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Heterozygous (Coriell=GM23232).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; c.1050_1054delGAAGA; Zygosity=Heterozygous (Coriell=GM23232).
CC   Omics: CNV analysis.
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)
HI   CVCL_8517 ! GM01390
SX   Male
AG   3M
CA   Induced pluripotent stem cell
DT   Created: 22-10-12; Last updated: 30-01-24; Version: 22
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RX   PubMed=23665875; DOI=10.1534/g3.113.006577; PMCID=PMC3704242;
RA   Tang Z.-Y., Berlin D.S., Toji L.H., Toruner G.A., Beiswanger C.M.,
RA   Kulkarni S., Martin C.L., Emanuel B.S., Christman M., Gerry N.P.;
RT   "A dynamic database of microarray-characterized cell lines with
RT   various cytogenetic and genomic backgrounds.";
RL   G3 (Bethesda) 3:1143-1149(2013).
//