کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5522627 | 1546033 | 2017 | 7 صفحه PDF | دانلود رایگان |
- An iPSC cell with complex heterogeneous mutations of ITGA2B gene was established.
- Platelets derived from GT-iPSCs mimic the phenotypes of Glanzmann thrombasthenia.
- Exogenous expression of wide type ITGA2B restored normal platelet aggregation.
Glanzmann thrombasthenia (GT) is a rare monogenic hemorrhagic disorder involving aggregation defect of non-nuclear platelets. In this study we generated induced pluripotent stem cells (iPSCs) from skin fibroblasts of a GT patient with complex heterogeneous mutations of ITGA2B gene. GT-iPSCs could be successfully differentiated into platelets (GT-iPS-platelets). GT-iPS-platelets were CD41 â/CD42b +/CD61 â and were platelet activation marker (PAC-1) negative after adenosine diphosphate (ADP) activation. Furthermore, GT-iPS-platelets were defective in platelet aggregation tests in vitro. Moreover, exogenous expression of the wild-type ITGA2B gene in GT-iPS platelets restored CD41 expression and normal platelet aggregation. Our study suggested that patient-specific iPSCs could be a potential target of stem cell based gene therapy for platelet diseases.
Journal: Stem Cell Research - Volume 20, April 2017, Pages 14-20