Severe congenital
neutropenia (SCN) is often associated with inherited heterozygous point
mutations in
Ramesh C. Nayak, Lisa R. Trump, Bruce J. Aronow, Kasiani Myers, Parinda Mehta, Theodosia Kalfa, Ashley M. Wellendorf, C. Alexander Valencia, Patrick J. Paddison, Marshall S. Horwitz, H. Leighton Grimes, Carolyn Lutzko, Jose A. Cancelas
Defective differentiation of promyelocytes derived from SCN iPSCs is associated with apoptosis, which can be reversed by forced activation of Akt/Bcl2.