Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant Hyper IgE syndrome (AD-HIES) patients carrying STAT3 mutation


Autosomal dominant Hyper IgE syndrome (AD-HIES), a rare immune deficiency affecting fewer than one per million people, is caused by heterozygous deleterious mutations in STAT3. STAT3 signaling plays crucial roles in basic cellular functions affecting broad aspects of cellular homeostasis. Accordingly, in addition to immunological deficits, patients experience severe multisystem non-immunological features. Human induced pluripotent stem cells (hiPSC) are well established as in vivo disease models for various human pathologies. We describe the generation of iPSC from three AD-HIES patients. These iPSCs express pluripotency markers, differentiate into three germ layers, have normal karyotype and similar genome identity to parental cells. Published by Elsevier B.V.

Authors Jin H, Yu Z, Navarengom K, Liu Y, Dmitrieva N, Hsu AP, Schwartzbeck R, Cudrici C, Ferrante EA, Yang D, Holland SM, Freeman AF, Boehm M, Chen G
Journal Stem cell research
Publication Date 2019 Dec;41:101586
PubMed 31707214
PubMed Central PMC6957122
DOI 10.1016/j.scr.2019.101586

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