[HTML][HTML] Generation of human induced pluripotent stem cell lines (NIHTVBi011-A, NIHTVBi012-A, NIHTVBi013-A) from autosomal dominant Hyper IgE syndrome (AD …

H Jin, Z Yu, K Navarengom, Y Liu, N Dmitrieva… - Stem cell …, 2019 - Elsevier
H Jin, Z Yu, K Navarengom, Y Liu, N Dmitrieva, AP Hsu, R Schwartzbeck, C Cudrici…
Stem cell research, 2019Elsevier
Abstract 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 …
Abstract
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.
Elsevier