Human Pluripotent Stem Cell-derived Adrenocortical Cells Model KCNJ5 Mutation in Primary Aldosteronism
Authors/Creators
- Tran Vo, Kieu Nhi (Contact person)1
-
Fernandez Vallone, Valeria
(Researcher)2
-
Secener, Kerim
(Contact person)1, 3, 4
-
Rauh, Manfred
(Researcher)5
-
Peitzsch, Mirko
(Researcher)6
-
Eisenhofer, Graeme
(Researcher)6
-
Bachmann, Sebastian
(Researcher)7
-
Stachelscheid, Harald
(Researcher)2
-
Scholl, Ute
(Contact person)1, 8
- 1. Center of Functional Genomics, Berlin Institute of Health at Charité
- 2. Stem Cell Core Facility, Berlin Institute of Health at Charité
-
3.
Max Delbrück Center
- 4. Institute of Biochemistry, Department of Biology, Chemistry and Pharmacy, Freie Universität Berlin
- 5. Kinder- und Jugendklinik, Klinisches Labor, Universitätsklinikum Erlangen
- 6. Departments of Clinical Chemistry and Laboratory Medicine, Universitätsklinikum Carl Gustav Carus
- 7. Institute for Vegetative Anatomy, Charité - Universitätsmedizin Berlin
- 8. Department of Nephrology and Medical Intensive Care, Charité Universitätsmedizin Berlin
Description
Our study aimed to create a more effective model for researching adrenocortical diseases by improving the differentiation process of human induced pluripotent stem cells (hiPSCs) into adrenocortical cells. We wanted a system that mimics natural hormone production and allows for easy genetic manipulation. By expressing a key factor, steroidogenic factor-1 (SF-1), and adding essential niche factors, we successfully generated cells that produce adrenal steroids like aldosterone. These cells showed gene expression patterns similar to those of fetal and adult adrenal cortex cells, responded to natural stimuli, and kept their ability to proliferate. By using CRISPR/Cas9 to introduce a KCNJ5 mutation associated with primary aldosteronism, we observed increased aldosterone production and cell growth, which are crucial for studying tumor development. This new system offers a valuable tool for better understanding adrenocortical diseases and developing new treatments.
Here, we provide our annotated single-cell RNA sequencing data as a Seurat object (Seurat v5.0.1).
Files
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Please contact Prof. Dr. med. Ute I. Scholl to get access to the data.
ute.scholl@bih-charite.de
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Additional details
Software
- Programming language
- R