Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation

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

Stem Cell Research (Oct 2024)

Establishment of a human induced pluripotent stem cell line (NIHTVBi031-A) derived from a COPA syndrome patient with a heterozygous p.Ala239Pro mutation

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

Affiliations

Benjamin Joseph: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Isabella Varea: 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
Caleb Sipwoli: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, 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

Journal volume & issue: Vol. 80
p. 103504

Abstract

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We have successfully generated human induced pluripotent stem cells (hiPSC) from peripheral blood mononuclear cells (PBMCs) of a patient with COPA Syndrome. The patient, a 6 year old Caucasian male, has a spontaneous de novo missense mutation that replaced alanine with proline in the COPA gene. This paper confirms the differentiation potential of the hiPSC line, the presence of the p.Ala239Pro mutation, and the expression of typical pluripotency markers within the hiPSC line. The hiPSC line is ready for use as a cellular model of COPA Syndrome.

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

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