Tissue-Specific Transgene Expression in Induced Pluripotent Stem (iPS) Cell-Derived Megakaryocytes: Correction of Glanzmann Thrombasthenia (GT)
| Autor: | Sevasti B. Koukouritaki, David A. Wilcox, Mortimer Poncz, Paul Gadue, Michele P. Lambert, Deborah L. French, Li Zhai, Juan Fang, Jason A. Mills, Karen Vo, Spencer K. Sullivan, Prasuna Paluru |
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| Rok vydání: | 2012 |
| Předmět: | |
| Zdroj: | Blood. 120:387-387 |
| ISSN: | 1528-0020 0006-4971 |
| DOI: | 10.1182/blood.v120.21.387.387 |
| Popis: | Abstract 387 Megakaryocyte-specific transgene expression in patient-derived iPS cells offers a new approach to study and potentially treat disorders that affect megakaryocytes and platelets. The feasibility of this method was demonstrated in GT, a disorder resulting from an absence of functional platelet integrin alphaIIb/beta3, leading to impaired platelet aggregation and clinically presenting with severe bleeding. While rare, GT can serve as a model of an inherited platelet disorder that would benefit from corrective cell therapy. For this study, iPS cells were generated from the peripheral blood of healthy controls and two patients with GT. Patient 1 is homozygous for a novel alphaIIb exon/intron 4 splice site mutation, leading to an alternatively spliced transcript and premature stop codon. Patient 2 is homozygous for a previously reported alphaIIb missense mutation in exon 8 (p.G273D), leading to impaired intracellular transport and surface expression of the heterodimer. Both patients express Disclosures: No relevant conflicts of interest to declare. |
| Databáze: | OpenAIRE |
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