ID   iPAI-026-C-K
AC   CVCL_A4GV
DR   Wikidata; Q105509679
RX   PubMed=27934602;
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=Homozygous (PubMed=27934602).
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: 12-01-21; Last updated: 19-12-24; Version: 5
//
RX   PubMed=27934602; DOI=10.1016/j.scr.2016.11.010; PMCID=PMC5409870;
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 a patient with
RT   a novel homozygous PAI-1 mutation.";
RL   Stem Cell Res. 17:657-660(2016).
//