DEE31患者来源iPSC系FDCHI007-A的建立与DNM1基因突变研究

Abstract

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 FDCHI007-A , was generated using non-integrating episomal vector technique from peripheral blood mononuclear cells (PBMCs) of a 3-year-old female DDE31 patient, who had a heterozygous (c.545C > A P. Ala 182Asp) mutation in the DNM1 gene. FDCHI007-A offers a useful cell resource to investigate pathogenic mechanisms in DEE31, as well as a cell-based model for drug development for DEE31.