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Related Experiment Video

Updated: Jul 31, 2025

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development

2D and 3D Human Induced Pluripotent Stem Cell-Based Models to Dissect Primary Cilium Involvement during Neocortical Development

Published on: March 25, 2022

Modeling ciliopathies in patient-derived primary cells.

G Yealland¹, M Jevtic¹, K-U Eckardt¹

¹Department of Nephrology and Medical Intensive Care, Charité -Universitätsmedizin Berlin, Berlin, Germany.

Methods in Cell Biology

|May 10, 2023

Summary

This summary is machine-generated.

Patient-derived cells offer new ways to study inherited ciliopathies affecting multiple organs. These advanced cell models, including renal tubuloids, help understand disease mechanisms without complex genetic manipulation.

Keywords:

3D culture Ciliopathy Fibroblast Organotypic Patient derived Personalized medicine Renal epithelial cell Tubuloid Urine derived

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Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Evaluation of Planar-Cell-Polarity Phenotypes in Ciliopathy Mouse Mutant Cochlea

Published on: February 21, 2016

Area of Science:

Cell Biology
Genetics
Nephrology

Background:

Ciliopathies are inherited disorders stemming from mutations in genes for cilia or centrosome proteins.
These diseases impact multiple organs and are a leading cause of kidney failure across all age groups.
Primary cilia are crucial for cellular functions including signaling, cell cycle, planar cell polarity, and mechanosensing.

Purpose of the Study:

To establish and validate patient-derived cell culture methods for studying ciliopathies.
To investigate the utility of dermal fibroblasts and urine-derived renal epithelial cells for disease modeling.
To develop and characterize three-dimensional renal epithelial organoids (tubuloids) as in vitro models.

Main Methods:

Culturing patient-derived dermal fibroblasts and isolating/culturing renal epithelial cells from urine.
Inducing ciliary assembly in fibroblasts and establishing monolayer cultures of renal epithelial cells.
Forming and characterizing three-dimensional renal epithelial organoids (tubuloids) for in vitro studies.

Main Results:

Patient-derived fibroblasts are robust, long-lived, and facilitate easy ciliary assembly studies.
Urine-derived renal epithelial cells can be cultured without invasive procedures, aiding ciliopathy research.
Renal epithelial organoids exhibit in vivo-like epithelial polarization and transport functions.

Conclusions:

Patient-derived cells provide valuable in vitro models for investigating human ciliopathies.
These models enable the study of disease mechanisms without requiring extensive genetic manipulation.
The developed cell and organoid systems hold significant potential for advancing ciliopathy research and understanding.