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Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene.
Varea, Isabella; Joseph, Benjamin; Emmerich, Kevin; Manohar-Sindhu, Sahana; Zou, Jizhong; Friend, Kip; Tang, Xuming; Yang, Dan; de Jesus Rasheed, Adriana A; Goldbach-Mansky, Raphaela; Boehm, Manfred.
Afiliação
  • Varea I; Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
  • Joseph B; 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.
  • 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: 103517, 2024 Oct.
Article em En | MEDLINE | ID: mdl-39106600
ABSTRACT
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diferenciação Celular / Proteína cdc42 de Ligação ao GTP / Células-Tronco Pluripotentes Induzidas / Heterozigoto / Mutação Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Diferenciação Celular / Proteína cdc42 de Ligação ao GTP / Células-Tronco Pluripotentes Induzidas / Heterozigoto / Mutação Limite: Adolescent / Child / Female / Humans / Male Idioma: En Revista: Stem Cell Res Ano de publicação: 2024 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Reino Unido