Generation of an induced pluripotent stem cell line (FDCHI007-A) derived from a patient with developmental and epileptic encephalopathy Type 31 carrying heterozygous c.545C > A mutation in DNM1 gene.

Abstract excerpt

Developmental and epileptic encephalopathy Type 31 (DEE31) is a severe early infantile epileptic encephalopathy with intellectual and movement disability caused by heterozygous mutations in the Dynamin 1 gene, which encodes DNM1, a GTPase involved in synaptic vesicle fission for receptor-mediated endocytosis on the presynaptic plasma membrane. A human induced pluripotent stem cell (iPSC) line, termed as...

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