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

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

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

Affiliation

Joseph B; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Varea I; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Emmerich K; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Manohar-Sindhu S; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Zou J; Induced Pluripotent Stem Cells (iPSC) Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Friend K; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Sipwoli C; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Tang X; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Yang D; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
de Jesus Rasheed AA; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Goldbach-Mansky R; Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.
Boehm M; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: boehmm@nhlbi.nih.gov.

Stem Cell Res ; 80: 103504, 2024 Oct.

Article de En | MEDLINE | ID: mdl-39110999

ABSTRACT

ABSTRACT

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.

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Cellules souches pluripotentes induites Limites: Child / Humans / Male Langue: En Journal: Stem Cell Res Année: 2024 Type de document: Article Pays d'affiliation: États-Unis d'Amérique Pays de publication: Royaume-Uni

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