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

Author
Cui S.,Fang X.,Lee H.,Shin Y.J.,Koh E.S.,Chung S.,Park H.S.,Lim S.W.,Lee K.I.,Lee J.Y.,Yang C.W.,Chung B.H.
Journal Title
Journal of Translational Medicine
Publication Year
2023
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Summary

This study aimed to explore the possibility of modeling Fabry disease nephropathy (FDN) using kidney organoids generated from patient-derived human induced pluripotent stem cells (hiPSC) and to recapitulate the disease phenotype. Reduced alpha-galactosidase A activity and increased globotriaosylceremide deposition were observed in hiPSCs and kidney organoids derived from Fabry disease patients, with disease severity varying according to the GLA mutation type.

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