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 induc...

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Published inStem cell research Vol. 62; p. 102791
Main Authors Li, Shasha, Zhu, Qunyan, Cai, Yaoyao, Yang, Qian
Format Journal Article
LanguageEnglish
Published England Elsevier B.V 01.07.2022
Elsevier
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Summary: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.
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ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102791