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Article

Generation of an induced pluripotent stem cell line from a patient with Angelman syndrome carrying UBE3A mutation.

Stem cell research - 1 Jul 2022

Li Shasha, Zhu Qunyan, Cai Yaoyao, Yang Qian

Abstract excerpt

Angelman syndrome (AS) is a neurodevelopmental disorder caused by abnormal expression or function defects of the UBE3A gene in the maternal chromosome region 15q11-13. In order to study the pathogenesis of Angelman syndrome and further search for its effective treatment, we established a human induced pluripotent stem cells (iPSCs) from an AS patient carrying the mutation p.Asp563Gly of UBE3A gene at maternal...

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Identifiers

PMID: 35489268
DOI: 10.1016/j.scr.2022.102791

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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