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| Status |
Public on Dec 16, 2019 |
| Title |
Molecular basis for autosomal-dominant renal Fanconi syndrome caused by HNF4A |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
A specific missense mutation in the DNA binding domain of HNF4A, R85W, causes Fanconi renotubular syndrome (FRTS). To confirm results found in Drosophila, a direct reprogramming approach was applied. Induced renal epithelial tubular cells (iRECs) were generated using transcription factors Hnf1b, Pax8 and either HNF4A WT or HNF4A R85W. RNA Seq analysis of reprogrammed cells shows mitochondrial dysfunction caused by the R85W mutation.
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| Overall design |
9 samples: 3 replicates of MEFs (mouse embryonic fibroblasts), 3 replicates of iRECs (induced renal epithelial tubular cells) reprogrammed with Hnf1b, Pax8 and Hnf4a R85W and 3 replicates of iRECs reprogrammed with Hnf1b, Pax8 and Hnf4a WT.
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| Contributor(s) |
Marchesin V, Pérez-Martí A, Le Meur G, Pichler R, Grand K, Klootwik ED, Kleta R, Lienkamp SS, Simons M |
| Citation(s) |
31875549 |
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| Submission date |
Oct 31, 2019 |
| Last update date |
Jan 02, 2020 |
| Contact name |
Soeren Lienkamp |
| Organization name |
University of Zürich
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| Department |
Institute of Anatomy
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| Lab |
Lienkamp group
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| Street address |
Winterthurerstrasse 190
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| City |
Zürich |
| State/province |
Zürich |
| ZIP/Postal code |
8057 |
| Country |
Switzerland |
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| Platforms (1) |
| GPL21103 |
Illumina HiSeq 4000 (Mus musculus) |
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| Samples (9)
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| Relations |
| BioProject |
PRJNA586857 |
| SRA |
SRP227837 |
| Supplementary file |
Size |
Download |
File type/resource |
| GSE139674_RAW.tar |
1.1 Mb |
(http)(custom) |
TAR (of TAB) |
SRA Run Selector |
| Raw data are available in SRA |
| Processed data provided as supplementary file |
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