Article

Generation and characterization of iPSC lines (UOHi001-A, UOHi002-A) From a patient with SHANK3 mutation and her healthy mother

2022-04-13

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes global developmental disability, delayed or absent speech, and autism spectrum disorder. The loss of function of one copy of SHANK3 , which codes for a scaffolding protein found in the postsynaptic density of synapses, has been identified as the main cause of PMS. We report the generation and characterization of two induced pluripotent stem ce...

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Literature Corpus work: 25518535-5a83-5278-9f74-ead96715fcf3
DOI: 10.1101/2022.04.13.486968

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