Article
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 - 1 Mar 2021
Rabinski Tatiana, Sagiv Sivan T, Hausman-Kedem Moran, Fattal-Valevski Aviva, Rubinstein Moran, Avraham Karen B, Vatine Gad D
Abstract excerpt
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...
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