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)

Tatiana Rabinski; Sivan T. Sagiv; Moran Hausman-Kedem; Aviva Fattal-Valevski; Moran Rubinstein; Karen B. Avraham; Gad D. Vatine

doi:10.1016/j.scr.2021.102178

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)

Tatiana Rabinski, Sivan T. Sagiv, Moran Hausman-Kedem, Aviva Fattal-Valevski, Moran Rubinstein, Karen B. Avraham, Gad D. Vatine

Department of Physiology and Cell Biology

Research output: Contribution to journal › Article › peer-review

Abstract

The GLUN2D subunit of the N-methyl D-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.

Original language	English
Article number	102178
Journal	Stem Cell Research
Volume	51
DOIs	https://doi.org/10.1016/j.scr.2021.102178
State	Published - 1 Mar 2021

ASJC Scopus subject areas

Developmental Biology
Cell Biology

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.scr.2021.102178

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Rabinski, T., Sagiv, S. T., Hausman-Kedem, M., Fattal-Valevski, A., Rubinstein, M., Avraham, K. B., & Vatine, G. D. (2021). 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 Research, 51, Article 102178. https://doi.org/10.1016/j.scr.2021.102178

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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)",

abstract = "The GLUN2D subunit of the N-methyl D-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.",

author = "Tatiana Rabinski and Sagiv, {Sivan T.} and Moran Hausman-Kedem and Aviva Fattal-Valevski and Moran Rubinstein and Avraham, {Karen B.} and Vatine, {Gad D.}",

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year = "2021",

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doi = "10.1016/j.scr.2021.102178",

language = "English",

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Rabinski, T, Sagiv, ST, Hausman-Kedem, M, Fattal-Valevski, A, Rubinstein, M, Avraham, KB & Vatine, GD 2021, '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 Research, vol. 51, 102178. https://doi.org/10.1016/j.scr.2021.102178

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). / Rabinski, Tatiana; Sagiv, Sivan T.; Hausman-Kedem, Moran et al.
In: Stem Cell Research, Vol. 51, 102178, 01.03.2021.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - 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)

AU - Rabinski, Tatiana

AU - Sagiv, Sivan T.

AU - Hausman-Kedem, Moran

AU - Fattal-Valevski, Aviva

AU - Rubinstein, Moran

AU - Avraham, Karen B.

AU - Vatine, Gad D.

PY - 2021/3/1

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N2 - The GLUN2D subunit of the N-methyl D-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.

AB - The GLUN2D subunit of the N-methyl D-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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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)

Abstract

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UN SDGs

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