|
| Status |
Public on Apr 09, 2017 |
| Title |
Modeling Trilateral Retinoblastoma using Human Embryonic Stem Cells |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
|
| Summary |
Human embryonic stem cells (hESCs) provide a platform for understanding mechanisms underlying diseases and finding ways to treat them. Trilateral retinoblastoma (TRb) is a condition in which retinoblastoma, the most common congenital intraocular malignancy, is associated with an intracranial neural tumor. This mostly fatal disease is caused by biallelic inactivation of the retinoblastoma-1 (RB1) gene, transcribing pRB. Using CRISPR-Cas9 we generated RB1-null hESCs, an embryonic lethal condition. These cells display distinct gene expression patterns with alterations in pRB targets, and mitochondrial phenotypes similar to those of poorly differentiated retinoblastomas. RB1–/– hESC produce extremely large teratomas, with neural expansions similar to those of TRb tumors. Analysis of these tumors revealed a potentially novel role of pRB in ectoderm differentiation, acting through ZEB1. Lastly, RB1–/– cells are significantly sensitive to carboplatin, a chemotherapy used to treat TRb, suggesting our model can be used to screen novel treatments for the disease.
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| |
|
| Overall design |
Analysis of RB1–/– human embryonic cell lines and teratomas initiated from them
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| |
|
| Contributor(s) |
Avior Y, Benvenisty N |
| Citation(s) |
28392220 |
| Submission date |
Jul 18, 2016 |
| Last update date |
May 15, 2019 |
| Contact name |
Yishai Avior |
| Phone |
+972-2-6584803
|
| Organization name |
Hebrew University of Jeursalem
|
| Department |
Genetics
|
| Lab |
Nissim Benvenisty
|
| Street address |
Edmond J. Safra Campus, Givat Ram
|
| City |
Jerusalem |
| State/province |
Israel |
| ZIP/Postal code |
91904 |
| Country |
Israel |
| |
|
| Platforms (1) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
|
| Samples (10)
|
|
| Relations |
| BioProject |
PRJNA329518 |
| SRA |
SRP078823 |
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