公开(公告)号：US20240376437A1

公开(公告)日：2024-11-14

申请号：US18444289

申请日：2024-02-16

Applicant: University of Washington

Inventor： Hongxia Fu ,  Benjamin Freedman ,  Jose A. Lopez

IPC: C12N5/071 ,  C12M3/00 ,  C12M3/06 ,  C12N9/22 ,  G01N33/50

Abstract: The present disclosure provides methods and compositions useful for generating cellular models of VWF disease from human pluripotent stem cells. In one aspect, the present disclosure relates to a method for the generation of an in vitro cellular model of VWF disease comprising VWF disease-relevant endothelial cells derived from human pluripotent stem cells (hPSCs). In an embodiment, the human pluripotent stem cells (hPSCs) are treated with an agent effective in suppressing or deleting at least one gene sequence encoding a protein and/or a subunit thereof, where the protein and/or subunit thereof is associated with VWF-linked secretion. The present disclosure also provides uses of the cellular models disclosed herein.

公开(公告)号：US20250027932A1

公开(公告)日：2025-01-23

申请号：US18713882

申请日：2022-11-30

Applicant: University of Washington

Inventor： Benjamin Freedman

IPC: G01N33/50 ,  C12N5/071 ,  C12N9/22 ,  C12N15/11 ,  C12N15/90

Abstract: Embodiments of the present disclosure provide compositions and methods for making a genetically modified pluripotent stem cell, wherein the genetically modified pluripotent stem cell lacks cilia. Embodiments of the present disclosure also provide compositions and methods for using the genetically modified pluripotent stem cell to generate genetically modified organoids, wherein the genetically modified organoids lack cilia. Knockout
Isogenic Gene
guide RNA
Mutants
Controls KIF3A
CATATGGACAAACCGGAAC
7
7 KIF3B
TTCGCTGTCGGCCCATGAA
3
3 TACACCATGGAAGGAATCCG
4
2