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Status |
Public on Jan 24, 2023 |
Title |
The transcriptomic landscape of glutamatergic cortical neurons carrying Alzheimer’s disease PSEN1 mutations reveals alterations in structural components, signalling, and ncRNA regulation |
Organism |
Homo sapiens |
Experiment type |
Expression profiling by high throughput sequencing
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Summary |
To investigate gene expression changes related to two fAD mutations (A79V and L150P) in the Presenilin-1 gene (PSEN1) we compared the transcriptomes (polyA and total) of glutamatergic cortical neurons derived from fAD-mutant human induced pluripotent stem cells and their individual isogenic controls generated via precision CRISPR/Cas9 genome editing.
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Overall design |
RNA-seq study on human induced pluripotent stem cells differentiated in glutamatergic cortical neurons carrying A79V and L150P mutations in PSEN1, compared to gene-corrected controls.
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Contributor(s) |
Corsi GI, Gadekar VP, Haukedal H, Doncheva NT, Anthon C, Ambardar S, Palakodeti D, Simonsen AH, Nielsen TT, Nielsen JE, Hyttel P, Freude K, Seemann SE, Gorodkin J |
Citation(s) |
36572121, 36875643 |
Submission date |
Aug 24, 2022 |
Last update date |
Jun 14, 2023 |
Contact name |
Christian Anthon |
E-mail(s) |
anthon@rth.dk
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Phone |
+4521510929
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Organization name |
University of Copenhagen
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Department |
Veterinary and Animal Sciences
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Lab |
RTH
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Street address |
Thorvaldsens Vej 57
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City |
Frederiksberg C |
ZIP/Postal code |
1871 |
Country |
Denmark |
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Platforms (1) |
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Samples (40)
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GSM6506917 |
A79V, Neu, Week7, RNA, S1 (polyA RNA) |
GSM6506918 |
A79V, Neu, Week7, RNA, S2 (polyA RNA) |
GSM6506919 |
A79V, Neu, Week7, RNA, S3 (polyA RNA) |
GSM6506920 |
A79V, Neu, Week7, RNA, S4 (polyA RNA) |
GSM6506921 |
A79V, Neu, Week7, RNA, S5 (polyA RNA) |
GSM6506922 |
A79V, GC, Neu, Week7, RNA, S1 (polyA RNA) |
GSM6506923 |
A79V, GC, Neu, Week7, RNA, S2 (polyA RNA) |
GSM6506924 |
A79V, GC, Neu, Week7, RNA, S3 (polyA RNA) |
GSM6506925 |
A79V, GC, Neu, Week7, RNA, S4 (polyA RNA) |
GSM6506926 |
A79V, GC, Neu, Week7, RNA, S5 (polyA RNA) |
GSM6506927 |
L150P, Neu, Week7, RNA, S1 (polyA RNA) |
GSM6506928 |
L150P, Neu, Week7, RNA, S2 (polyA RNA) |
GSM6506929 |
L150P, Neu, Week7, RNA, S3 (polyA RNA) |
GSM6506930 |
L150P, Neu, Week7, RNA, S4 (polyA RNA) |
GSM6506931 |
L150P, Neu, Week7, RNA, S5 (polyA RNA) |
GSM6506932 |
L150P, GC, Neu, Week7, RNA, S1 (polyA RNA) |
GSM6506933 |
L150P, GC, Neu, Week7, RNA, S2 (polyA RNA) |
GSM6506934 |
L150P, GC, Neu, Week7, RNA, S3 (polyA RNA) |
GSM6506935 |
L150P, GC, Neu, Week7, RNA, S4 (polyA RNA) |
GSM6506936 |
L150P, GC, Neu, Week7, RNA, S5 (polyA RNA) |
GSM6506937 |
A79V, Neu, Week7, RNA, S1 (total RNA) |
GSM6506938 |
A79V, Neu, Week7, RNA, S2 (total RNA) |
GSM6506939 |
A79V, Neu, Week7, RNA, S3 (total RNA) |
GSM6506940 |
A79V, Neu, Week7, RNA, S4 (total RNA) |
GSM6506941 |
A79V, Neu, Week7, RNA, S5 (total RNA) |
GSM6506942 |
A79V, GC, Neu, Week7, RNA, S1 (total RNA) |
GSM6506943 |
A79V, GC, Neu, Week7, RNA, S2 (total RNA) |
GSM6506944 |
A79V, GC, Neu, Week7, RNA, S3 (total RNA) |
GSM6506945 |
A79V, GC, Neu, Week7, RNA, S4 (total RNA) |
GSM6506946 |
A79V, GC, Neu, Week7, RNA, S5 (total RNA) |
GSM6506947 |
L150P, Neu, Week7, RNA, S1 (total RNA) |
GSM6506948 |
L150P, Neu, Week7, RNA, S2 (total RNA) |
GSM6506949 |
L150P, Neu, Week7, RNA, S3 (total RNA) |
GSM6506950 |
L150P, Neu, Week7, RNA, S4 (total RNA) |
GSM6506951 |
L150P, Neu, Week7, RNA, S5 (total RNA) |
GSM6506952 |
L150P, GC, Neu, Week7, RNA, S1 (total RNA) |
GSM6506953 |
L150P, GC, Neu, Week7, RNA, S2 (total RNA) |
GSM6506954 |
L150P, GC, Neu, Week7, RNA, S3 (total RNA) |
GSM6506955 |
L150P, GC, Neu, Week7, RNA, S4 (total RNA) |
GSM6506956 |
L150P, GC, Neu, Week7, RNA, S5 (total RNA) |
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Relations |
BioProject |
PRJNA873113 |
Supplementary file |
Size |
Download |
File type/resource |
GSE211993_gencode_fantomcat.v1.02.genes_transcripts_exons.gtf.gz |
33.5 Mb |
(ftp)(http) |
GTF |
GSE211993_uniquely_mapping-raw_counts_polyA.tsv.gz |
7.0 Mb |
(ftp)(http) |
TSV |
GSE211993_uniquely_mapping-raw_counts_total.tsv.gz |
7.1 Mb |
(ftp)(http) |
TSV |
SRA Run Selector |
Raw data are available in SRA |
Processed data are available on Series record |
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