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)

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...

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Published in:Stem cell research 2021-03, Vol.51, p.102178-102178, Article 102178
Main Authors: Rabinski, Tatiana, Sagiv, Sivan T., Hausman-Kedem, Moran, Fattal-Valevski, Aviva, Rubinstein, Moran, Avraham, Karen B., Vatine, Gad D.
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container_title Stem cell research
container_volume 51
creator Rabinski, Tatiana
Sagiv, Sivan T.
Hausman-Kedem, Moran
Fattal-Valevski, Aviva
Rubinstein, Moran
Avraham, Karen B.
Vatine, Gad D.
description 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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title 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)
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