| Enhancer ID: | E_01_0734 |
| Species: | human |
| Position : | chr2:60447469-60449469 |
| Biosample name: | |
| Experiment class : | High+Lowthroughput |
| Enhancer type: | Enhancer |
| Disease: | B-globin thalassemia |
| Pubmed ID: | 30182035 |
| Enhancer experiment: | Miseq deep sequencing, QRT PCR, immunofluorescence staining |
| Enhancer experiment description: | In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing. |
| Target gene : | BCL11A |
| Strong evidence: | qRT-PCR,qPCR,ChIP,3C |
| Less strong evidence: | RNA-Seq |
| Target gene experiment description: | In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing. |
| TF name : | -- |
| TF experiment: | MiSeq Deep Sequencing,qRT-PCR,?????? |
| TF experiment description: | In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing. |
| Enhancer function : | In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing. |
| Enhancer function experiment: | Immunohistochemical staining |
| Enhancer function experiment description: |
In addition, BCL11A enhancer modification in mobilized CD34+ cells from patients with b-thalassemia major resulted in a readily detectable g-globin increase with a preferential increase in G-gamma, leading to an improved phenotype and, likely, a survival advantage for maturing erythroid cells after editing. |
| SNP ID: | -- |
| GeneName | Pathway Name | Source | Gene Number |
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