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)

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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Brain Diseases*
  • Cell Differentiation
  • Heterozygote
  • Humans
  • Induced Pluripotent Stem Cells*
  • Mutation
  • Receptors, N-Methyl-D-Aspartate / genetics


  • GRIN2D protein, human
  • Receptors, N-Methyl-D-Aspartate