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Series GSE137090 Query DataSets for GSE137090
Status Public on Sep 01, 2021
Title RNA-Sequencing analysis of control and SORBS2 knockdown cardiac progenitor cells derived from human stem cells in vitro
Organism Homo sapiens
Experiment type Expression profiling by high throughput sequencing
Summary Chromosome 4q deletion syndrome is one of the most frequently detected genomic imbalance events in congenital heart disease (CHD) patients. However, a portion of terminal 4q deletions with CHD do not include known CHD genes. Here in a target sequencing of a panel of known and candidate CHD genes, we showed that the detrimental rare variants of SORBS2 in 4q35.1 are significantly enriched in CHD patients. Examination of Sorbs2-/- mouse hearts revealed two types of atrial septal defects (ASD), atrial hypoplasia/aplasia and double atrial septum. In vitro human cardiogenesis indicated a dual role of SORBS2 in maintaining sarcomeric integrity of cardiomyocytes and specifying the fate of cardiac progenitors. Mechanistically, SORBS2 promotes the commitment of the second heart field (SHF) over the first heart field (FHF) fate through c-ABL/NOTCH/SHH axis. Taken together, our data demonstrate that SORBS2 is a novel CHD gene within deleted 4q interval. The presence of double atrial septum in Sorbs2-/- mouse reveals the first molecular etiology of the rare anomaly linked to paradoxical thromboembolism.
Overall design Examination of mRNA profiles of control and SORBS2 knockdown cardiac progenitor cells
Contributor(s) Liang F, Zhang X, Wang B, Zhang Z, Fu Q
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Submission date Sep 09, 2019
Last update date Sep 02, 2021
Contact name Fei Liang
Organization name Shanghai Jiao Tong University School of Medicine
Department Shanghai Children's Medical Center
Lab Zhen Zhang
Street address 1678 Dong Fang Road
City Shanghai
State/province Shanghai
ZIP/Postal code 200127
Country China
Platforms (1)
GPL24676 Illumina NovaSeq 6000 (Homo sapiens)
Samples (6)
GSM4066689 33_1_D5_3
GSM4066690 33_8_D5_2
GSM4066691 34_11_D5_1
BioProject PRJNA564531
SRA SRP221026

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
GSE137090_RAW.tar 1.7 Mb (http)(custom) TAR (of TXT)
SRA Run SelectorHelp
Raw data are available in SRA
Processed data provided as supplementary file

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