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Series GSE54409 Query DataSets for GSE54409
Status Public on Feb 03, 2014
Title Pathways Disrupted in Human ALS Motor Neurons Identified Through Genetic Correction of Mutant SOD1
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Although many distinct mutations in a variety of genes are known to cause Amyotrophic Lateral Sclerosis (ALS), it remains poorly understood how they selectively impact motor neuron biology and whether they converge on common pathways to cause neural degeneration. Here, we have combined reprogramming and stem cell differentiation approaches with genome engineering and RNA sequencing to define the transcriptional changes that are induced in human motor neurons by mutant SOD1. Mutant SOD1 protein induced a transcriptional signature indicative of increased oxidative stress, reduced mitochondrial function, altered sub-cellular transport as well as activation of the ER stress and unfolded protein response pathways. Functional studies demonstrated that perturbations in these pathways were indeed the source of altered transcript levels.
Overall design 5 samples, 2 patient-derived SOD1A4V and 3 isogenic control samples where the mutation has been corrected. All samples are motor neurons derived from induced pluripotent stem cells (iPSCs), and isolated after lentiviral infection with an Hb9:RFP construct and FACS purification. Each sample is a separate biological replicate.
Contributor(s) Moccia R, Kiskinis E, Eggan K
Citation(s) 24704492
Submission date Jan 27, 2014
Last update date Mar 20, 2019
Contact name Kevin Eggan
Organization name Harvard University
Department Stem Cell and Regenerative Biology
Street address 7 Divinity Avenue, Sherman Fairchild 258A
City Cambridge
State/province MA
ZIP/Postal code 02138
Country USA
Platforms (1)
GPL11154 Illumina HiSeq 2000 (Homo sapiens)
Samples (5)
GSM1314595 SOD1 A4V/+ -1
GSM1314596 SOD1 A4V/+ -2
GSM1314597 SOD1 +/+ -1
BioProject PRJNA236453
SRA SRP035862

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE54409_RAW.tar 480.0 Kb (http)(custom) TAR (of TXT)
GSE54409_mean_replicate_count_matrix.txt.gz 214.8 Kb (ftp)(http) TXT
Raw data are available in SRA
Processed data provided as supplementary file
Processed data is available on Series record

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