PMID- 33482465
OWN - NLM
STAT- MEDLINE
DCOM- 20210621
LR  - 20210621
IS  - 1876-7753 (Electronic)
IS  - 1873-5061 (Linking)
VI  - 51
DP  - 2021 Mar
TI  - 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).
PG  - 102178
LID - S1873-5061(21)00024-6 [pii]
LID - 10.1016/j.scr.2021.102178 [doi]
AB  - 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.
CI  - Copyright (c) 2021 The Authors. Published by Elsevier B.V. All rights reserved.
FAU - Rabinski, Tatiana
AU  - Rabinski T
AD  - The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion 
      University of the Negev, Beer Sheva 84105, Israel.
FAU - Sagiv, Sivan T
AU  - Sagiv ST
AD  - 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.
FAU - Hausman-Kedem, Moran
AU  - Hausman-Kedem M
AD  - Pediatric Neurology Institute, Dana-Dewk Children's Hospital, Tel-Aviv Sourasky 
      Medical Center, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel 
      Aviv 6997801, Israel.
FAU - Fattal-Valevski, Aviva
AU  - Fattal-Valevski A
AD  - Pediatric Neurology Institute, Dana-Dewk Children's Hospital, Tel-Aviv Sourasky 
      Medical Center, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel 
      Aviv 6997801, Israel.
FAU - Rubinstein, Moran
AU  - Rubinstein M
AD  - Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of 
      Medicine and Sagol of Neuroscience, Tel Aviv University, Tel Aviv 6997801, 
      Israel; Goldschleger Eye Research Institute, Tel Aviv University, Sheba Medical 
      Center, Tel Hashomer 52621, Israel.
FAU - Avraham, Karen B
AU  - Avraham KB
AD  - Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of 
      Medicine and Sagol of Neuroscience, Tel Aviv University, Tel Aviv 6997801, 
      Israel.
FAU - Vatine, Gad D
AU  - Vatine GD
AD  - 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; The Zlotowski Center for Neuroscience, Ben-Gurion 
      University of the Negev, Beer Sheva, 84105, Israel. Electronic address: 
      vatineg@bgu.ac.il.
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20210115
PL  - England
TA  - Stem Cell Res
JT  - Stem cell research
JID - 101316957
RN  - 0 (GRIN2D protein, human)
RN  - 0 (Receptors, N-Methyl-D-Aspartate)
SB  - IM
MH  - *Brain Diseases
MH  - Cell Differentiation
MH  - Heterozygote
MH  - Humans
MH  - *Induced Pluripotent Stem Cells
MH  - Mutation
MH  - Receptors, N-Methyl-D-Aspartate/genetics
EDAT- 2021/01/23 06:00
MHDA- 2021/06/22 06:00
CRDT- 2021/01/22 20:12
PHST- 2020/12/09 00:00 [received]
PHST- 2021/01/04 00:00 [revised]
PHST- 2021/01/09 00:00 [accepted]
PHST- 2021/01/23 06:00 [pubmed]
PHST- 2021/06/22 06:00 [medline]
PHST- 2021/01/22 20:12 [entrez]
AID - S1873-5061(21)00024-6 [pii]
AID - 10.1016/j.scr.2021.102178 [doi]
PST - ppublish
SO  - Stem Cell Res. 2021 Mar;51:102178. doi: 10.1016/j.scr.2021.102178. Epub 2021 Jan 
      15.