Generation of four induced pluripotent stem cell lines, GZWWTi001-A, GZWTZi001-A, GZWXYi001-A, and GZWXDi001-A, derived from peripheral blood mononuclear cells from a family with asparagine synthetase deficiency

被引：2

作者：

Xie Yingjun ^{[1
]}

Lu Dian ^{[1
]}

Wang Ding ^{[1
]}

Li Shaoying ^{[1
]}

Yang Yinghong ^{[1
]}

Liu Nengqing ^{[1
]}

Sun Xiaofang ^{[1
]}

机构：

[1] Guangzhou Med Univ, Affiliated Hosp 3, Key Lab Major Obstetr Dis Guangdong Prov, Expt Dept,Inst Gynecol & Obstet, Guangzhou 510150, Guangdong, Peoples R China

来源：

STEM CELL RESEARCH | 2019年 / 41卷

基金：

中国国家自然科学基金;

关键词：

D O I：

10.1016/j.scr.2019.101583

中图分类号：

Q813 [细胞工程];

学科分类号：

摘要：

Asparagine synthetase (ASNS) deficiency (ASNSD; MIM #615574) is a rare neurodevelopmental disorder caused by mutations in the ASNS gene. The ASNS gene maps to cytogenetic band 7q21.3 and is 35 kb long. ASNSD is characterised by congenital microcephaly, severely delayed psychomotor development, seizures, and hyperekplexic activity. Here, we reported a family with compound heterozygous mutations in ASNS (NM_001178076:c.551C>T; c. 944A>C) and established induced pluripotent stem cells (iPSCs) from blood samples. To date, limited functional data have been reported to explain the underlying pathophysiology of ASNSD; therefore, iPSCs from these patients may be powerful tools for studying disease mechanisms.

引用

页数：4

共 3 条

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