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（WAS）是一种x连锁的原发性免疫缺陷疾病。WAS基因突变导致Wiskott-Aldrich综合征。我们对一名XLN患者的血细胞进行了全基因组测序，并在WAS基因（WASp I290T）中发现了一种新的错义突变。我们使用CRISPER/Cas9系统生成敲入小鼠模型。我们成功敲除了小鼠WAS基因exan 9的I292T突变，该突变与人WAS I290T突变兼容。结果，我们得到了两只突变阳性的雄性和三只雌性老鼠。然后在它们之间进行杂交，得到用于该模型系统的纯纯合子小鼠。

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.