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

Journal

Stem cell research
ISSN: 1876-7753
Titre abrégé: Stem Cell Res
Pays: England
ID NLM: 101316957

Informations de publication

Date de publication:
19 Jul 2024
Historique:
received: 05 07 2024
revised: 15 07 2024
accepted: 18 07 2024
medline: 7 8 2024
pubmed: 7 8 2024
entrez: 7 8 2024
Statut: aheadofprint

Résumé

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.

Identifiants

DOI: 10.1016/j.scr.2024.103504 PMID: 39110999
pubmed: 39110999
pii: S1873-5061(24)00202-2
doi: 10.1016/j.scr.2024.103504
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

103504

Informations de copyright

Published by Elsevier B.V.

Déclaration de conflit d'intérêts

Declaration of competing interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper.

Auteurs

Benjamin Joseph (B)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Isabella Varea (I)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Kevin Emmerich (K)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Sahana Manohar-Sindhu (S)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Jizhong Zou (J)

Induced Pluripotent Stem Cells (iPSC) Core, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Kip Friend (K)

Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Caleb Sipwoli (C)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Xuming Tang (X)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Dan Yang (D)

Translational Vascular Medicine Branch, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.

Adriana A de Jesus Rasheed (AA)

Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Raphaela Goldbach-Mansky (R)

Translational Autoinflammatory Diseases Section, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

Manfred 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.

Classifications MeSH