ID   iPAI-015-2-F
AC   CVCL_JL78
DR   Wikidata; Q54897942
RX   PubMed=28395801;
CC   From: Department of Medicine and Cardiovascular Center, Medical College of Wisconsin; Milwaukee; USA.
CC   Sequence variation: Mutation; HGNC; HGNC:8583; SERPINE1; Simple; c.4977insTA (2-BP INS,4977TA); ClinVar=VCV000013571; Zygosity=Heterozygous (PubMed=28395801).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C133884; Plasminogen activator inhibitor-1 deficiency
DI   ORDO; Orphanet_465; Congenital plasminogen activator inhibitor type 1 deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Induced pluripotent stem cell
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 9
//
RX   PubMed=28395801; DOI=10.1016/j.scr.2016.12.003; PMCID=PMC5939958;
RA   Afzal M.Z., Gartz M., Klyachko E.A., Khan S.S., Shah S.J., Gupta S.,
RA   Shapiro A.D., Vaughan D.E., Strande J.L.;
RT   "Generation of human iPSCs from urine derived cells of patient with a
RT   novel heterozygous PAI-1 mutation.";
RL   Stem Cell Res. 18:41-44(2017).
//