Creation of iPSC line NCHi004-A from a patient with down syndrome and congenital heart defects


Down syndrome is a congenital disorder resulting from an extra full or partial chromosome 21, which is characterized by a spectrum of systemic developmental abnormalities, including those affecting the cardiovascular system. Here, we generated an iPSC line from peripheral blood mononuclear cells of a male adolescent with Down syndrome-associated congenital heart defects through Sendai virus-mediated transfection of 4 Yamanaka factors. This line exhibited normal morphology, expressed pluripotency markers, trisomy 21 karyotype, and could be differentiated into three germ layers. This iPSC line can be used for studying cellular and developmental etiologies of congenital heart defects induced by aneuploidy of chromosome 21. Copyright © 2023 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Alonzo M, Ye S, Beckman B, Texter K, Garg V, Zhao MT
Journal Stem cell research
Publication Date 2023 Sep;71:103156
PubMed 37393719
DOI 10.1016/j.scr.2023.103156

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