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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.

Stem cell research - 1 Oct 2024

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

Abstract excerpt

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...

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Identifiers

PMID: 39110999
DOI: 10.1016/j.scr.2024.103504
PMCID: PMC11426554

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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