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Generation of an induced pluripotent stem cell line (SDQLCHi067-A) from a patient with subcortical band heterotopia harboring a heterozygous mutation in DCX gene
Stem Cell Research ( IF 1.2 ) Pub Date : 2024-02-22 , DOI: 10.1016/j.scr.2024.103356
Chunlai Gao , Xiaomeng Yang , Yanan Yang , Ning Liu , Yue Li , Yi Liu , Zhongtao Gai

Subcortical band heterotopia (SHB) is a rare severe brain developmental malformation caused by deficient neuronal migration during the development of cerebral cortex. Here, a human induced pluripotent stem cell (iPSCs) line was established from a 4-year-1-month-old girl with SHB carrying a heterozygous mutation (c.568A > G, p.K190E) in . The generated iPSC line showed the ability to differentiate into three lineages in vitro and was confirmed by pluripotency markers and the original gene mutation.

中文翻译:

从具有 DCX 基因杂合突变的皮层下带异位患者中产生诱导多能干细胞系 (SDQLCHi067-A)

皮质下带状异位(SHB)是一种罕见的严重脑发育畸形,由大脑皮层发育过程中神经元迁移缺陷引起。在这里,从一名 4 岁 1 个月大的女孩身上建立了人类诱导多能干细胞 (iPSC) 系,该女孩的 SHB 携带杂合突变 (c.568A > G,p.K190E)。生成的 iPSC 系显示出在体外分化为三个谱系的能力,并通过多能性标记和原始基因突变得到证实。
更新日期:2024-02-22
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