Correction of X-linked Neutropenia(XLN) by iPS cell based new gene modified therapy

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In vivo XLN mouse model:Wiskott-Aldrich syndrome (WAS) is an X-linked primary immunodeficiency disorder. Mutation in WAS gene cause Wiskott-Aldrich syndrome.We performed the whole genome sequencing of the blood cells from an XLN patient and identified a novel missense mutation in the WAS gene (WASp I290T).We used CRISPER/Cas9 system to generate knock in mouse model. We successfully knocked in I292T mutation in exan 9 of WAS gene in mice which was compatible of WAS I290T human mutation.As a result we got two mutation positive male and three female mice. Then cross breeding in between them to get pure homozygous mouse for this model system.