Cellosaurus cell line iPAI-015-2-F (CVCL

Cross-references
Cell line name	iPAI-015-2-F
Accession	CVCL_JL78
Resource Identification Initiative	To cite this cell line use: iPAI-015-2-F (RRID:CVCL_JL78)
Comments	From: Department of Medicine and Cardiovascular Center, Medical College of Wisconsin; Milwaukee; USA. Derived from site: In situ; Urine; UBERON=UBERON_0001088.
Sequence variations	Mutation; HGNC; HGNC:8583; SERPINE1; Simple; c.4977insTA (2-BP INS,4977TA); ClinVar=VCV000013571; Zygosity=Heterozygous (PubMed=28395801).
Disease	Plasminogen activator inhibitor-1 deficiency (NCIt: C133884) Congenital plasminogen activator inhibitor type 1 deficiency (ORDO: Orphanet_465)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Female
Age at sampling	Age unspecified
Category	Induced pluripotent stem cell
Publications	PubMed=28395801; DOI=10.1016/j.scr.2016.12.003; PMCID=PMC5939958 Afzal M.Z., Gartz M., Klyachko E.A., Khan S.S., Shah S.J., Gupta S., Shapiro A.D., Vaughan D.E., Strande J.L. Generation of human iPSCs from urine derived cells of patient with a novel heterozygous PAI-1 mutation. Stem Cell Res. 18:41-44(2017)
Encyclopedic resources	Wikidata; Q54897942
Entry history
Entry creation	15-May-2017
Last entry update	19-Dec-2024
Version number	9