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

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 d...

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Bibliographic Details
Published in:Stem cell research 2022-03, Vol.59, p.102634-102634, Article 102634
Main Authors: Ji, Xinna, Gao, Yanyan, Zhang, Pingping, Jin, Ziqi, Zhang, Yan, Yang, Minna, Zhang, Xue, Chen, Qian
Format: Article
Language:English
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Summary: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 germ layers in vitro.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2021.102634