Gene correction of HAX1 reversed Kostmann disease phenotype in patient-specific induced pluripotent stem cells

Abstract: Severe congenital neutropenia (SCN, Kostmann disease) is a heritable disorder characterized by a granulocytic maturation arrest. Biallelic mutations in HCLS1 associated protein X-1 (HAX1) are frequently detected in affected individuals, including those of the original pedigree described by...

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Bibliographic Details

Published in:	Blood Advances
Main Authors:	Erik Pittermann, Nico Lachmann, Glenn MacLean, Stephan Emmrich, Mania Ackermann, Gudrun Göhring, Brigitte Schlegelberger, Karl Welte, Axel Schambach, Dirk Heckl, Stuart H. Orkin, Tobias Cantz, Jan-Henning Klusmann
Format:	Article
Language:	English
Published:	Elsevier 2017-06-01
Online Access:	http://www.sciencedirect.com/science/article/pii/S2473952920302020