The GLUN2D subunit of the N-methyl D-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突变与神经发育和癫痫性脑病有关。获得具有GRIN2D突变的患者样品可有助于理解NMDAR在神经元发育和功能中的作用。我们报道了从头开始的GRIN2D-发育和癫痫性脑病（DEE）患者的诱导多能干细胞（iPSC）系的产生，从头开始。1999G> A杂合的致病变异体，以及他的健康父母。生成的系高度表达多能性标记，自发分化为三个胚层，保留了引起缺陷的突变，并显示出正常的核型。