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)
Summary
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. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.
| Authors | Rabinski T, Sagiv ST, Hausman-Kedem M, Fattal-Valevski A, Rubinstein M, Avraham KB, Vatine GD |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2021 Mar;51:102178 |
| PubMed | 33482465 |
| DOI | 10.1016/j.scr.2021.102178 |