Modeling of Fabry disease nephropathy using patient derived human induced pluripotent stem cells and kidney organoid system.

ABSTRACT:

Objectives

To explore the possibility of kidney organoids generated using patient derived human induced pluripotent stem cells (hiPSC) for modeling of Fabry disease nephropathy (FDN).

Methods

First, we generated hiPSC line using peripheral blood mononuclear cells (PBMCs) from two male FD-patients with different types of GLA mutation: a classic type mutation (CMC-Fb-001) and a non-classic type (CMC-Fb-003) mutation. Second, we generated kidney organoids using wild-type (WT) hiPSC (WTC-11) and mutant hiPSCs (CMC-Fb-001 and CMC-Fb-003). We then compared alpha-galactosidase A (α-GalA) activity, deposition of globotriaosylceremide (Gb-3), and zebra body formation under electromicroscopy (EM).

Results

Both FD patients derived hiPSCs had the same mutations as those detected

SUBMITTER: Cui S 

PROVIDER: S-EPMC9948377 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature