Abstract：
: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.
journal_name
Stem Cell Resjournal_title
Stem cell researchauthors
Yingjun X,Dian L,Ding W,Shaoying L,Yinghong Y,Nengqing L,Xiaofang Sdoi
10.1016/j.scr.2019.101583subject
Has Abstractpub_date
2019-12-01 00:00:00pages
101583eissn
1873-5061issn
1876-7753pii
S1873-5061(19)30213-2journal_volume
41pub_type
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journal_title：Stem cell research
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journal_title：Stem cell research
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journal_title：Stem cell research
pub_type： 杂志文章
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更新日期：2014-03-01 00:00:00
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journal_title：Stem cell research
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journal_title：Stem cell research
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journal_title：Stem cell research
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journal_title：Stem cell research
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journal_title：Stem cell research
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