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| Status |
Public on Oct 01, 2015 |
| Title |
Transcriptome analysis of mouse embryonic fibroblasts of NIPBL-haploinsufficient mice |
| Organism |
Mus musculus |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Cohesinopathies are characterized by mutations in the cohesin complex. Mutations in NIPBL, a cohesin loader, result in Cornelia de Lange syndrome (CdLS). CdLS is a congenital genetic disorder distinguished by craniofacial dysmorphism, abnormal upper limb development, delayed growth, severe cognitive retardation, and multiple organ malformations.It has been suggested that CdLS is caused by defects in the cohesin network that alter gene expression and genome organization. However, the precise molecular etiology of CdLS is largely unclear. To gain insights, we sequenced mRNAs isolated from mouse embryonic fibroblasts of both WT and NIPBL-haploinsufficient mice and compared their transcriptomes.
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| |
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| Overall design |
Examination of gene expression of WT and NIPBL+/- mice by RNA-seq
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| |
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| Contributor(s) |
Yuen K, Gerton J |
| Citation(s) |
26725122 |
| Submission date |
Jan 06, 2015 |
| Last update date |
May 15, 2019 |
| Contact name |
Jennifer Gerton |
| Phone |
8169264301
|
| Organization name |
Stowers Institute for Medical Research
|
| Lab |
Gerton Lab
|
| Street address |
1000 E. 50th Street
|
| City |
Kansas City |
| State/province |
Missouri |
| ZIP/Postal code |
64110 |
| Country |
USA |
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| Platforms (1) |
| GPL17021 |
Illumina HiSeq 2500 (Mus musculus) |
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| Samples (6)
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| Relations |
| BioProject |
PRJNA271694 |
| SRA |
SRP051733 |
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