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建立一株来源于 COPA 综合征杂合 p.Ala239Pro 突变患者的人诱导多能干细胞系（NIHTVBi031-A）。

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

机构信息

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

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

出版信息

Stem Cell Res. 2024 Oct;80:103504. doi: 10.1016/j.scr.2024.103504. Epub 2024 Jul 19.

DOI:10.1016/j.scr.2024.103504
PMID:39110999
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11426554/
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.

摘要

我们已经成功地从 COPA 综合征患者的外周血单核细胞 (PBMC) 中生成了人类诱导多能干细胞 (hiPSC)。该患者为 6 岁白人男性，存在 COPA 基因中丙氨酸被脯氨酸取代的自发从头突变。本文证实了 hiPSC 系的分化潜能、p.Ala239Pro 突变的存在以及 hiPSC 系中典型多能性标志物的表达。该 hiPSC 系可作为 COPA 综合征的细胞模型使用。

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本文引用的文献

1
Generation of two induced pluripotent stem cell lines (NHLBIi001-A and NHLBIi001-B) from a healthy Caucasian female volunteer with normal cardiac function.从一名心功能正常的健康白种女性志愿者身上成功诱导生成了两条诱导多能干细胞系（NHLBIi001 - A和NHLBIi001 - B）。
Stem Cell Res. 2019 Dec;41:101627. doi: 10.1016/j.scr.2019.101627. Epub 2019 Nov 1.
2
Generation of human induced pluripotent stem cells from individuals with a homozygous CCR5Δ32 mutation.从具有纯合CCR5Δ32突变的个体中生成人类诱导多能干细胞。
Stem Cell Res. 2019 Jul;38:101481. doi: 10.1016/j.scr.2019.101481. Epub 2019 Jun 5.
3
Genetics of COPA syndrome.
COPA综合征的遗传学
Appl Clin Genet. 2019 Feb 8;12:11-18. doi: 10.2147/TACG.S153600. eCollection 2019.
4
Increased activity of TNAP compensates for reduced adenosine production and promotes ectopic calcification in the genetic disease ACDC.在遗传性疾病ACDC中，组织非特异性碱性磷酸酶（TNAP）活性增加可补偿腺苷生成减少并促进异位钙化。
Sci Signal. 2016 Dec 13;9(458):ra121. doi: 10.1126/scisignal.aaf9109.
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Copa Syndrome: a Novel Autosomal Dominant Immune Dysregulatory Disease.科帕综合征：一种新型常染色体显性免疫调节异常疾病。
J Clin Immunol. 2016 May;36(4):377-387. doi: 10.1007/s10875-016-0271-8. Epub 2016 Apr 5.