iPS cells from Chediak-Higashi syndrome patients recapitulate the giant granules in myeloid cells

概要

Background: Chediak-­Higashi syndrome (CHS) is a congenital disease characterized
by immunodeficiency, hemophagocytic lymphohistiocytosis, oculocutaneous
albinism, and neurological symptoms. The presence of giant granules in peripheral
blood leukocytes is an important hallmark of CHS. Here we prepared induced
pluripotent stem cells (iPSCs) from CHS patients (CHS-­iPSCs) and differentiated
them into hematopoietic cells to model the disease phenotypes.
Methods: Fibroblasts were obtained from two CHS patients and then reprogrammed
into iPSCs. The iPSCs were differentiated into myeloid cells; the size of the cytosolic
granules was quantified by May-­Grunwald Giemsa staining and myeloperoxidase
staining.
Results: Two clones of iPSCs were established from each patient. The differentiation
efficiency to CD33+CD45+ myeloid cells was not significantly different in CHS-­
iPSCs compared with control iPSCs, but significantly larger granules were
observed.
Conclusions: We succeeded in reproducing a characteristic cellular phenotype,
giant granules in myeloid cells, using CHS-­iPSCs, demonstrating that iPSCs can
be used to model the pathogenesis of CHS patients. ...

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