Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene

Rebecca Harper; Quan Yu; Yangtenyu Liu; Dan Yang; Jizhong Zou; Jeanette Beers; Adriana A. de Jesus Rasheed; Raphaela Goldbach-Mansky; Manfred Boehm; Guibin Chen

Stem Cell Research (Oct 2022)

Human induced pluripotent stem cells generated from a patient with a homozygous mutation in the Lyn kinase gene

Rebecca Harper,
Quan Yu,
Yangtenyu Liu,
Dan Yang,
Jizhong Zou,
Jeanette Beers,
Adriana A. de Jesus Rasheed,
Raphaela Goldbach-Mansky,
Manfred Boehm,
Guibin Chen

Affiliations

Rebecca Harper: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Quan Yu: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Yangtenyu Liu: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Department of Rheumatology and Immunology, Xiangya Hospital, Central South University, Changsha, China
Dan Yang: 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
Jeanette Beers: Induced Pluripotent Stem Cells (iPSC) Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA
Adriana A. de Jesus Rasheed: Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
Raphaela Goldbach-Mansky: Inflammatory Disease Section, National Human Genome Research Institute, 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
Guibin Chen: Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA; Corresponding author.

Journal volume & issue: Vol. 64
p. 102933

Abstract

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We have successfully generated induced pluripotent stem cells (iPSC) from dermal fibroblasts of the patient with a germline mutation in the coding region of the LYN kinase gene. This gain of function (GOF) mutation eliminates the inhibitory tyrosine (Y) at the position p.Y508, with an unknown established disease etiology. The iPSC carrying germline mutation in LYN are phenotypically normal, and they have capacity to differentiate toward the three germ layers. These iPSCs are critical for studying this unknown disease etiology and to the further understand the role of Lyn kinases in autoimmune disease.

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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