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Items: 17

1.

Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model

(Submitter supplied) Seckel syndrome (SS) is a rare spectrum of congenital severe microcephaly and dwarfism. One SS-causative gene is Ataxia Telangiectasia and Rad3-Related Protein (ATR), and ATR (c.2101 A>G) mutation causes skipping of exon 9, resulting in a hypomorphic ATR defect in patients. Because ATR governs DNA repair response, the mutation has been considered the cause of an impaired response to DNA replication stress in neuronal progenitor cells (NPCs), which is associated with the pathogenesis of microcephaly. more...
Organism:
Homo sapiens
Type:
Expression profiling by high throughput sequencing
Platform:
GPL18460
15 Samples
Download data: TXT
Series
Accession:
GSE121384
ID:
200121384
2.

Illumina HiSeq 1500 (Homo sapiens)

Platform
Accession:
GPL18460
ID:
100018460
3.

cS2-1-6_5

Organism:
Homo sapiens
Source name:
Corrected iPSCs-derived definitive endodermal cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433677
ID:
303433677
4.

cS2-1-6_24

Organism:
Homo sapiens
Source name:
Corrected iPSCs-derived d24 neural progenitor cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433676
ID:
303433676
5.

cS2-1-6_12

Organism:
Homo sapiens
Source name:
Corrected iPSCs-derived d12 neural progenitor cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433675
ID:
303433675
6.

cS2-1-6_0

Organism:
Homo sapiens
Source name:
Corrected iPSCs
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433674
ID:
303433674
7.

S2-2_5

Organism:
Homo sapiens
Source name:
Disease iPSCs-derived definitive endodermal cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433673
ID:
303433673
8.

S2-2_24

Organism:
Homo sapiens
Source name:
Disease iPSCs-derived d24 neural progenitor cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433672
ID:
303433672
9.

S2-2_12

Organism:
Homo sapiens
Source name:
Disease iPSCs-derived d12 neural progenitor cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433671
ID:
303433671
10.

S2-2_0

Organism:
Homo sapiens
Source name:
Disease iPSCs
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433670
ID:
303433670
11.

S2-1_5

Organism:
Homo sapiens
Source name:
Disease iPSCs-derived definitive endodermal cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433669
ID:
303433669
12.

S2-1_24

Organism:
Homo sapiens
Source name:
Disease iPSCs-derived d24 neural progenitor cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433668
ID:
303433668
13.

S2-1_12

Organism:
Homo sapiens
Source name:
Disease iPSCs-derived d12 neural progenitor cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433667
ID:
303433667
14.

S2-1_0

Organism:
Homo sapiens
Source name:
Disease iPSCs
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433666
ID:
303433666
15.

B2_24

Organism:
Homo sapiens
Source name:
Healthy control iPSCs-derived d24 neural progenitor cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433665
ID:
303433665
16.

B2_12

Organism:
Homo sapiens
Source name:
Healthy control iPSCs-derived d12 neural progenitor cells
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433664
ID:
303433664
17.

B2_0

Organism:
Homo sapiens
Source name:
Healthy control iPSCs
Platform:
GPL18460
Series:
GSE121384
Download data
Sample
Accession:
GSM3433663
ID:
303433663
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Supplemental Content

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