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| Status |
Public on Jun 10, 2023 |
| Title |
Gene expression profiling of HUVEC-s expressing PIK3CA with H1047R point mutation |
| Organism |
Homo sapiens |
| Experiment type |
Expression profiling by high throughput sequencing
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| Summary |
Sporadic venous malformations (VM) and angiomatosis of soft tissue (AST) are benign, congenital slow-flow vascular anomalies that have no available targeted therapies. Depending on the size and location of the lesion, symptoms vary from motility disturbances to pain and disfigurement. By analyzing tissue samples from 36 patients with VM or AST, we uncover that the majority of the samples carry a somatic mutation in either TEK or PIK3CA gene. In the current data set, we study the role of PIK3CA point mutation p.H1047R on the transcriptional profile of human umbilical vein endothelial cells (HUVEC-s).
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| Overall design |
RNA-Seq of human umbilical vein endothelial cells (HUVEC-s) transduced with lentivirus encoding either wild type PIK3CA or PIK3CA with the pathological point mutation p.H1047R.
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| Contributor(s) |
Laakkonen JP, Kaikkonen MU, Örd T |
| Citation(s) |
37199488 |
| |
| Submission date |
Feb 07, 2022 |
| Last update date |
Jun 10, 2023 |
| Contact name |
Tiit Örd |
| E-mail(s) |
tiit.ord@uef.fi
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| Organization name |
A.I. Virtanen Institute for Molecular Sciences, University of Eastern Finland
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| Lab |
Cardiovascular Genomics (Minna Kaikkonen)
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| Street address |
Neulaniementie 2
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| City |
Kuopio |
| ZIP/Postal code |
70211 |
| Country |
Finland |
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| Platforms (1) |
| GPL18573 |
Illumina NextSeq 500 (Homo sapiens) |
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| Samples (12)
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| Relations |
| BioProject |
PRJNA804236 |
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