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Series GSE214070 Query DataSets for GSE214070
Status Public on Sep 27, 2023
Title Distinct spectrum of ciliopathic diseases results from de novoTUBB4B variants through differential effects on organelle-specific microtubules
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary We establish a necessary and non-redundant function for TUBB4B in building centrioles and axonemes of multiciliated cells placing ciliopathies more broadly into human tubulinopathies.  
Overall design RNA-seq data of primary cultured nasal epithelial cells from biopsies of controls and patients carrying p.P259L and pP358S variants of TUBB4B
Contributor(s) Yeyati P, Grimes G
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Submission date Sep 23, 2022
Last update date Sep 27, 2023
Contact name Graeme Richard Grimes
Organization name University of Edinburgh, The Institute of Genetics and Cancer
Department Human Genetics Unit
Lab Bioinformatics Analysis Core
Street address Western General Hospital, Crewe Road
City Edinburgh
ZIP/Postal code EH4 2XU
Country United Kingdom
Platforms (1)
GPL21697 NextSeq 550 (Homo sapiens)
Samples (12)
GSM6598655 Control W123-1
GSM6598656 Control W123-2
GSM6598657 Control BE 20- 1
BioProject PRJNA883709

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Supplementary file Size Download File type/resource
GSE214070_salmon.merged.gene_counts_length_scaled.tsv.gz 1.7 Mb (ftp)(http) TSV
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Processed data are available on Series record

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