ID   ADA-iPS2
AC   CVCL_C104
SY   ADA-IPS2
DR   Wikidata; Q54608765
RX   Patent=US20110151447;
RX   PubMed=18691744;
CC   From: Children's Hospital Boston; Boston; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; p.Gly216Arg (c.646G>A); ClinVar=VCV000001968; Zygosity=Heterozygous (from parent cell line).
CC   Sequence variation: Mutation; HGNC; 186; ADA; Simple; c.1050_1054delGAAGA; Zygosity=Heterozygous (from parent cell line).
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: 06-06-12; Last updated: 10-09-24; Version: 23
//
RX   Patent=US20110151447;
RA   Park I.-H., Daley G.Q., Agarwal S., Lerou P.H.;
RT   "Method to produce induced pluripotent stem (iPS) cells from
RT   non-embryonic human cells.";
RL   Patent number US20110151447, 23-Jun-2011.
//
RX   PubMed=18691744; DOI=10.1016/j.cell.2008.07.041; PMCID=PMC2633781;
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).
//