Functional Comparison of Induced Pluripotent Stem Cell- and Blood-Derived GPIIbIIIa Deficient Platelets
Figure 1
Characterization of hiPSC-derived MKs from a patient with a compound heterozygous mutation leading to Glanzmann thrombasthenia.
(A) Scheme of the ITGA2B gene locus showing the location of the two mutations carried by the patient (GT) in exons 19 and 25. Sequencing data confirming the point mutation 1922C>T on exon 19 and the insertion 2478_2479insT on exon 25. (B) Scheme of the GPIIbIIIa receptor showing the location of the two mutations. (C) Flow cytometry of CD45, CD42b and CD41/CD61 expression on hiPSC-derived MKs. Cells were stained with anti-CD45 (y-axis) and anti-CD42b (x-axis) antibodies. CD42b and CD45 double positive cells were gated and stained for CD41/CD61. For gating hierarchy see S10 Fig. (D) Immunofluorescence of hiPSC-derived MKs. Cells were stained with anti-CD42b (red), anti-CD41/CD61 (green) antibodies and DAPI (blue) with (right) or without (left) Triton-X100 permeabilization. All scale bars represent 20 μm. Representative images for each sample.