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Series GSE141531 Query DataSets for GSE141531
Status Public on Dec 06, 2019
Title Transcriptomic comparison of 3D retinal organoids derived from retinitis pigmentosa patient harboring PDE6B mutation and non-phenotype control
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Retinitis pigmentosa (RP) is a hereditary retinal degenerative disease. Although an increasing number of disease genes have been identified, the exact cellular mechanisms of RP remain largely unclear. Retinal organoids (ROs) derived from the induced pluripotent stem cells (iPSCs) of patients provide a potential but unvalidated platform for deciphering disease mechanisms. Here, we developed patient ROs with a PDE6B mutation.To investigate the transcriptional effects of the PDE6B mutation, comparison of bulk RNA-seq profiles were performed in patient and control ROs, which were collected from the mid-stage (D90, 120, 150 and 180) to late-stage (D230). Transcriptome analysis revealed a remarkably distinct gene expression profile in the patient ROs at late-stage.Gene Ontology (GO) analysis of the transcripts significantly different at D230 between the patient and control ROs indicated an enrichment of genes implicated in G-protein-coupled receptor activity, G-protein-coupled receptor signaling pathway and calcium ion binding.
Overall design Examination of 5 groups of retinal organoids derived from RP patient and control respectively
Contributor(s) Jin Z, Gao M, Han F
Citation(s) 32211407
Submission date Dec 05, 2019
Last update date Mar 30, 2020
Contact name Mei-Ling Gao
Phone 8657788067926
Organization name Wenzhou Medical University
Department Division of Ophthalmic Genetics
Lab Laboratory of Stem Cell & Retinal Regeneration
Street address N0.207, West Xueyuan Road
City Wenzhou
State/province Zhejiang
ZIP/Postal code 325027
Country China
Platforms (1)
GPL24676 Illumina NovaSeq 6000 (Homo sapiens)
Samples (10)
GSM4205749 CZJ-B2-D90
GSM4205750 CZJ-B2-D120
GSM4205751 CZJ-B2-D150
BioProject PRJNA593821
SRA SRP234886

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Supplementary file Size Download File type/resource
GSE141531_PDE6B_retinal_organoid_ref_trans_full_table.txt.gz 7.5 Mb (ftp)(http) TXT
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