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.

Cell Differentiation Cells, Cultured Fibroblasts / metabolism Genes, Dominant Humans Induced Pluripotent Stem Cells / metabolism Job Syndrome / genetics Mutation STAT3 Transcription Factor / genetics
Autosomal dominant Hyper IgE syndrome (AD-HIES) STAT3 iPSC

Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
12 2019
Historique:
received: 07 08 2019
revised: 08 09 2019
accepted: 14 09 2019
pubmed: 11 11 2019
medline: 2 7 2020
entrez: 11 11 2019
Statut: ppublish

Résumé

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.

Identifiants

DOI: 10.1016/j.scr.2019.101586 PMID: 31707214 PMC: PMC6957122
pubmed: 31707214
pii: S1873-5061(19)30216-8
doi: 10.1016/j.scr.2019.101586
pmc: PMC6957122
mid: NIHMS1546163
pii:
doi:

Substances chimiques

STAT3 Transcription Factor 0
STAT3 protein, human 0

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

101586

Subventions

Organisme : Intramural NIH HHS
ID : Z99 HL999999
Pays : United States

Informations de copyright

Published by Elsevier B.V.

Références

Nature. 2007 Aug 30;448(7157):1058-62
pubmed: 17676033
Sci Signal. 2016 Dec 13;9(458):ra121
pubmed: 27965423
N Engl J Med. 2007 Oct 18;357(16):1608-19
pubmed: 17881745
Dis Markers. 2010;29(3-4):123-30
pubmed: 21178271
J Res Med Sci. 2017 Apr 26;22:53
pubmed: 28567072

Auteurs

Hui Jin (H)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Current address: Department of Hematology, The First Affiliated Hospital of Nanjing Medical University, Jiangsu Province Hospital, Nanjing 210029, China; Key Laboratory of Hematology of Nanjing Medical University, Nanjing 210029, China.

Zhen Yu (Z)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Current address: State Key Laboratory of Experimental Hematology, Institute of Hematology and Blood Diseases Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Tianjin 300020, China.

Keron Navarengom (K)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Yangtengyu Liu (Y)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Current address: Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha, China.

Natalia Dmitrieva (N)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Amy P Hsu (AP)

Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD 20892, USA.

Robin Schwartzbeck (R)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Cornelia Cudrici (C)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Elisa A Ferrante (EA)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Dan Yang (D)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Steven M Holland (SM)

Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD 20892, USA.

Alexandra F Freeman (AF)

Laboratory of Clinical Immunology and Microbiology, NIAID, NIH, Bethesda, MD 20892, USA.

Manfred Boehm (M)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Guibin Chen (G)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: chengb@nhlbi.nih.gov.

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Classifications MeSH

questionsmedicales.fr › Phénomènes physiologiques cellulaires › Différenciation cellulaire › Generation of human induced pluripotent stem...
questionsmedicales.fr › Cellules › Cellules cultivées › Generation of human induced pluripotent stem...
questionsmedicales.fr › Cellules › Cellules du tissu conjonctif › Fibroblastes › Generation of human induced pluripotent stem...
questionsmedicales.fr › Phénomènes génétiques › Modes de transmission héréditaire › Gènes dominants › Generation of human induced pluripotent stem...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Generation of human induced pluripotent stem...
questionsmedicales.fr › Cellules › Cellules souches › Cellules souches pluripotentes › Cellules souches pluripotentes induites › Generation of human induced pluripotent stem...
questionsmedicales.fr › Maladies du système immunitaire › Déficits immunitaires › Maladies d'immunodéficience primaire › Syndrome de Job › Generation of human induced pluripotent stem...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Mutation › Generation of human induced pluripotent stem...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Facteurs de transcription › Facteurs de transcription STAT › Facteur de transcription STAT-3 › Generation of human induced pluripotent stem...