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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).

Author information

Affiliations

  • 1. The Regenerative Medicine and Stem Cell (RMSC) Research Center, Ben-Gurion University of the Negev, Beer Sheva 84105, Israel.
      Authors
    • Rabinski T 1
    (1 author)
  • 2. 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.
      Authors
    • Sagiv ST 2
    (1 author)
  • 3. 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.
      Authors
    • Hausman-Kedem M 3
    • Fattal-Valevski A 3
    (2 authors)
  • 4. 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.
      Authors
    • Rubinstein M 4
    (1 author)
  • 5. Department of Human Molecular Genetics and Biochemistry, Sackler Faculty of Medicine and Sagol of Neuroscience, Tel Aviv University, Tel Aviv 6997801, Israel.
      Authors
    • Avraham KB 5
    (1 author)
    • Show all (6)

ORCIDs linked to this article

Stem Cell Research, 15 Jan 2021, 51:102178
https://doi.org/10.1016/j.scr.2021.102178 PMID: 33482465 

Abstract 

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.

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Read article at publisher's site: https://doi.org/10.1016/j.scr.2021.102178

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EBiSC - European Bank for induced pluripotent Stem Cells (2)

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