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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.
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 in En | MEDLINE | ID: mdl-39110999
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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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Induced Pluripotent Stem Cells Limits: Child / Humans / Male Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Affiliation country: United States Country of publication: United kingdom
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Induced Pluripotent Stem Cells Limits: Child / Humans / Male Language: En Journal: Stem Cell Res Year: 2024 Document type: Article Affiliation country: United States Country of publication: United kingdom