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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
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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).
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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.
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Contributor(s) |
Vieira de Sá R, Sudria-Lopez E, Cañizares Luna M, Harschnitz O, Giuliani F, Pasterkamp RJ |
Citation(s) |
39209824 |
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Submission date |
Feb 06, 2023 |
Last update date |
Sep 30, 2024 |
Contact name |
R. Jeroen Pasterkamp |
Organization name |
University Medical Center Utrecht
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Department |
Translational Neuroscience
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Street address |
Universiteitsweg 100
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City |
Utrecht |
ZIP/Postal code |
3584CG |
Country |
Netherlands |
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Platforms (1) |
GPL16791 |
Illumina HiSeq 2500 (Homo sapiens) |
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Samples (10)
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GSM7026595 |
OH4.6 HC iPSC-derived motor neurons |
GSM7026596 |
35_8 HC iPSC-derived motor neurons |
GSM7026597 |
A18 ATXN2-ALS iPSC-derived motor neurons |
GSM7026598 |
B11 ATXN2-ALS iPSC-derived motor neurons |
GSM7026599 |
GG1 ATXN2-ALS iPSC-derived motor neurons |
GSM7026600 |
N9 ATXN2-ALS iPSC-derived motor neurons |
GSM7026601 |
P1 ATXN2-ALS iPSC-derived motor neurons |
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This SubSeries is part of SuperSeries: |
GSE224585 |
ATAXIN-2 Intermediate-length Polyglutamine Expansions Elicit ALS-associated Metabolic and Immune Phenotypes |
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Relations |
BioProject |
PRJNA934449 |