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


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 15q11.2-q13. The established patient-derived iPSC showed normal karyotype, expressed pluripotency markers, and had the capacity to differentiate into three germ layers. Copyright © 2022 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Li S, Zhu Q, Cai Y, Yang Q
Journal Stem cell research
Publication Date 2022 Apr 25;62:102791
PubMed 35489268
DOI 10.1016/j.scr.2022.102791

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