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Series GSE224578 Query DataSets for GSE224578
Status Public on Jul 16, 2024
Title Transcriptomic analysis of iPSC-derived motor neurons from ALS patients carrying ATXN2 intermediate repeat expansions and healthy controls
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Intermediate-length repeat expansions in ATAXIN-2 (ATXN2) are a strong genetic risk factor for amyotrophic lateral sclerosis (ALS). At the molecular level, ATXN2 intermediate expansions enhance TDP-43 toxicity and pathology. However, whether this triggers ALS pathogenesis at the cellular and functional level remains unknown. Here, we developed a human iPSC-derived model to investigate whether motor neurons derived from ALS patients carrying ATXN2 intermediate repeat expansions are transcriptomically distinct from healthy controls. For that, we performed RNA sequencing of motor neurons derived from 5 ATXN2-ALS iPSC lines and 5 healthy controls (HC).
 
Overall design iPSC differentiation into MN was performed as described previously with minor modifications (Amoroso et al., 2013). Human iPSC-derived MN samples from 5 controls and 5 ATXN2-ALS lines were isolated after 12 days of co-culture with mouse primary glia. Total RNA was isolated and extracted using the RNeasy Micro Kit and only samples with RIN ≥ 8.0 were used for RNA sequencing.
 
Contributor(s) Vieira de Sá R, Sudria-Lopez E, Cañizares Luna M, Harschnitz O, Giuliani F, Pasterkamp RJ
Citation(s) 39209824
Submission date Feb 06, 2023
Last update date Sep 30, 2024
Contact name R. Jeroen Pasterkamp
Organization name University Medical Center Utrecht
Department Translational Neuroscience
Street address Universiteitsweg 100
City Utrecht
ZIP/Postal code 3584CG
Country Netherlands
 
Platforms (1)
GPL16791 Illumina HiSeq 2500 (Homo sapiens)
Samples (10)
GSM7026592 OH1.5 HC iPSC-derived motor neurons
GSM7026593 OH2.6 HC iPSC-derived motor neurons
GSM7026594 BT8 HC iPSC-derived motor neurons
This SubSeries is part of SuperSeries:
GSE224585 ATAXIN-2 Intermediate-length Polyglutamine Expansions Elicit ALS-associated Metabolic and Immune Phenotypes
Relations
BioProject PRJNA934449

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Supplementary file Size Download File type/resource
GSE224578_MN_5vs5_edgeR_counts2.txt.gz 671.8 Kb (ftp)(http) TXT
GSE224578_MN_5vs5_sigGenesFDR005.txt.gz 1.3 Kb (ftp)(http) TXT
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Raw data are available in SRA
Processed data are available on Series record

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