Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene

Isabella Varea; Benjamin Joseph; Kevin Emmerich; Sahana Manohar-Sindhu; Jizhong Zou; Kip Friend; Xuming Tang; Dan Yang; Adriana A de Jesus Rasheed; Raphaela Goldbach-Mansky; Manfred Boehm

Stem Cell Research (Oct 2024)

Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene

Isabella Varea,
Benjamin Joseph,
Kevin Emmerich,
Sahana Manohar-Sindhu,
Jizhong Zou,
Kip Friend,
Xuming Tang,
Dan Yang,
Adriana A de Jesus Rasheed,
Raphaela Goldbach-Mansky,
Manfred Boehm

Affiliations

Isabella Varea: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Benjamin Joseph: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Kevin Emmerich: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Sahana Manohar-Sindhu: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Jizhong Zou: Induced Pluripotent Stem Cells (iPSC) Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Kip Friend: Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Xuming Tang: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Dan Yang: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Adriana A de Jesus Rasheed: Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Raphaela Goldbach-Mansky: Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Manfred Boehm: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Corresponding author.

Journal volume & issue: Vol. 80
p. 103517

Abstract

Read online

Induced pluripotent stem cells (iPSCs) were successfully generated from peripheral blood mononuclear cells obtained from two patients with a heterozygous mutation in the CDC42 gene. Both iPSC lines expressed pluripotency markers, differentiated into the three germ layers in vitro, showed normal karyotypes, and retained the disease-causing mutation. Created iPSC lines and their differentiated derivatives may be of interest in the study of the physiology of disease mechanisms and therapy.

Published in Stem Cell Research

ISSN: 1873-5061 (Print); 1876-7753 (Online)
Publisher: Elsevier
Country of publisher: Netherlands
LCC subjects: Science: Biology (General)
Website: https://www.journals.elsevier.com/stem-cell-research

About the journal