Generation of human iPSCs from urine derived cells of patient with a novel heterozygous PAI-1 mutation

Abstract

We have generated a human induced pluripotent stem cell (iPSC) line under feeder-free culture conditions using the urine derived cells (UCs) collected from subjects heterozygous for a novel Plasminogen Activator Inhibitor-1 (PAI-1) mutation. The Sendai Virus (SeV) vector encoding pluripotent Yamanaka transcription factors was used at a low multiplicity of infection to reprogram the PAI-1 UCs.

Urine-Derived Stem Cells: The Present and the Future

“…UDSC-derived disease-specific iPSCs have already been established in cardiac diseases [ 16 ], endocrine diseases [ 41 , 42 ], abnormal hemorrhagic diseases resulting from various causes [ 43 – 45 ], aneuploidy diseases such as Down syndrome [ 46 ], neural diseases [ 47 , 48 ], muscular disorders [ 49 , 50 ], fibrodysplasia ossificans progressiva [ 51 , 52 ], systemic lupus erythematosus [ 53 ], cryptorchidism [ 54 ], hypercholesterolemia [ 55 ], paroxysmal kinesigenic dyskinesia [ 56 ], and so on ( Table 1 ). After successful reprogramming and characterization, differentiation experiments are essential, since most of disease phenotypes are usually observed in lineage-committed cells after in vitro differentiation rather than being observed in the iPSCs.…”

Identification of Cardiac Fibrosis in Young Adults With a Homozygous Frameshift Variant in SERPINE1

“…As a proof-of-concept study, we used previously characterized iPSC lines to pursue preliminary mechanistic in vitro studies. [7][8][9] Cardiomyocyte differentiation of iPSCs was achieved by following published protocols 10,11 with details outlined in the eMethods in the Supplement from 1 participant homozygous for the c.699_700dupTA SERPINE1 variant and 1 wildtype control participant. Experimental results examining cardiomyocyte response to angiotensin II and metabolic stress are presented as mean (SEM).…”