Generation of a human iPSC line CIPi001-A from a benign familial infantile epilepsy patient related 16p11.2 deletion

摘要

The features of 16p11.2 deletion phenotype is developmental delay, intellectual disability, and autism spectrum disorder. Seizures are observed in approximately 20% of individuals with the microdeletion. Induced pluripotent stem cells (iPSCs) were generated from erythroblasts obtained from a child diagnosed with benign familial infantile epilepsy, caused by 16p11.2 deletion. These iPSCs exhibited stable amplification, expressed pluripotent markers, and differentiated spontaneously into three in vitro.

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