Podocyte Twin in Culture: Patient-specific ex vivo Model of Genetic FSGS caused by an INF2 Mutation

We used an ex vivo cell culture model to generate patient-specific podocytes from a patient with genetic FSGS caused by an INF2 mutation. The patient's entire genetic background was maintained in all cell types of the protocol. Bulk RNA sequencing analysis was performed to first validate the outcome of the protocol by comparing the hiPSC-derived podocytes generated from a healthy donor with a conditionally immortalized podocyte cell line. Subsequently, the patient-specific hiPSC-derived podocytes holding the INF2 mutation were compared to the healthy hiPSC-derived podocytes and mutation specific phenotypic and functional alterations were investigated.