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

体内XLN小鼠模型：Wiskott-Aldrich综合征是一种X连锁的原发免疫缺陷疾病。对一例XLN患者的血细胞进行了全基因组测序，发现了一个新的Wiskott-Aldrich综合征基因错义突变(WASPI290T)。我们使用CRISPER/Cas9系统建立了敲打小鼠模型。我们成功地在小鼠中敲除了与人的I290T突变相容的is基因Exan 9中的I292T突变，从而获得了两只突变阳性的雄性小鼠和三只雌性小鼠。然后在它们之间杂交，得到纯合子的小鼠，用于这个模型系统。

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.