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Generation and characterization of iPSC lines (UOHi003-A, UOHi002-A) from a patient with SHANK3 mutation and her healthy mother.

Stem cell research - 1 Oct 2022

Nayak Ritu, Rosh Idan, Rabinski Tatiana, Falik Daniel, Mendel Percia Menachem, Stern Shani

Abstract excerpt

Phelan-McDermid syndrome (PMS) is a rare genetic condition that causes global developmental disability, delayed or absent speech, and an 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...

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Autism Spectrum Disorder
Induced Pluripotent Stem Cells
Mothers
Mutation
Nerve Tissue Proteins

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PMID: 36044808
DOI: 10.1016/j.scr.2022.102899

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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