从一名杂合型GRIN2D发育性和癫痫性脑病（DEE）患者（BGUi011-A）以及一名健康家族亲属（BGUi012-A）中重编程两条诱导多能干细胞系。
Reprogramming of two induced pluripotent stem cell lines from a heterozygous GRIN2D developmental and epileptic encephalopathy (DEE) patient (BGUi011-A) and from a healthy family relative (BGUi012-A).
作者信息
Rabinski Tatiana, Sagiv Sivan T, Hausman-Kedem Moran, Fattal-Valevski Aviva, Rubinstein Moran, Avraham Karen B, Vatine Gad D
机构信息
The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel; The Department of Physiology and Cell Biology, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
出版信息
Stem Cell Res. 2021 Mar;51:102178. doi: 10.1016/j.scr.2021.102178. Epub 2021 Jan 15.
The GLUN2D subunit of the N-methylD-aspartate receptor (NMDAR) is encoded by the GRIN2D gene. Mutations in GRIN2D have been associated with neurodevelopmental and epileptic encephalopathies. Access to patient samples harboring mutations in GRIN2D can contribute to understanding the role of NMDAR in neuronal development and function. We report the generation of induced pluripotent stem cell (iPSC) lines from a GRIN2D-developmental and epileptic encephalopathy (DEE) patient, carrying a de novo c.1999G>A heterozygous pathogenic variant, and his healthy parent. Generated lines highly expressed pluripotency markers, spontaneously differentiated into the three germ layers, retained the deficiency-causing mutation, and displayed normal karyotypes.
N-甲基-D-天冬氨酸受体（NMDAR）的GLUN2D亚基由GRIN2D基因编码。GRIN2D基因突变与神经发育性和癫痫性脑病有关。获取携带GRIN2D基因突变的患者样本有助于了解NMDAR在神经元发育和功能中的作用。我们报告了从一名携带新发c.1999G>A杂合致病变异的GRIN2D相关神经发育性和癫痫性脑病（DEE）患者及其健康父母身上生成诱导多能干细胞（iPSC）系的过程。所生成的细胞系高度表达多能性标志物，可自发分化为三个胚层，保留了导致缺陷的突变，并显示出正常的核型。
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