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Series GSE92704 Query DataSets for GSE92704
Status Public on May 04, 2017
Title Transcriptional profiling of renal cells expressing wild type or mutant uromodulin isoforms.
Organism Mus musculus
Experiment type Expression profiling by high throughput sequencing
Summary Uromodulin is the most abundant urinary protein. It is exclusively produced and released in the urine by renal epithelial cells lining the thick ascending limb of Henleā€™s loop (TAL). Mutations in UMOD, the gene encoding uromodulin, cause autosomal dominant tubulointerstitial kidney disease uromodulin-related (ADTKD-UMOD). While the primary effect of all mutations, retention in the endoplasmic reticulum (ER), is well established, its downstream effects are still unknown. The aim of this study was to gain insight into ADTKD-UMOD pathogenesis through transcriptional profiling of immortalised mouse TAL cells (mTAL) transduced with lentiviral vectors encoding wild type or mutant (C150S) GFP-tagged human uromodulin.
Overall design Transcriptional profiling performed in triplicate of mTAL cells expressing GFP-tagged wild type or C150S mutant uromodulin isoforms.
Contributor(s) Schaeffer C, Merella S, Lazarevic D, Rampoldi L
Citation(s) 28437467
Submission date Dec 21, 2016
Last update date May 15, 2019
Contact name Luca Rampoldi
Organization name San Raffaele Scientific Institute
Street address Via Olgettina 60
City Milan
ZIP/Postal code 20132
Country Italy
Platforms (2)
GPL17021 Illumina HiSeq 2500 (Mus musculus)
GPL19057 Illumina NextSeq 500 (Mus musculus)
Samples (6)
GSM2435581 mTAL cells expressing GFP-tagged C150S uromodulin isoform replicate 1
GSM2435582 mTAL cells expressing GFP-tagged C150S uromodulin isoform replicate 2
GSM2435583 mTAL cells expressing GFP-tagged C150S uromodulin isoform replicate 3
BioProject PRJNA358410
SRA SRP095477

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SOFT formatted family file(s) SOFTHelp
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Supplementary file Size Download File type/resource
GSE92704_log2NormValues.xls.gz 832.4 Kb (ftp)(http) XLS
GSE92704_mm10.ensGene_UMOD.gtf.gz 8.4 Mb (ftp)(http) GTF
GSE92704_mm10_UMOD.fa.gz 830.1 Mb (ftp)(http) FA
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Raw data are available in SRA
Processed data are available on Series record

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