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本文引用的文献

1
Trapping of CDC42 C-terminal variants in the Golgi drives pyrin inflammasome hyperactivation.CDC42 羧基末端变异体在高尔基体中的捕获导致 pyrin 炎性小体过度激活。
J Exp Med. 2022 Jun 6;219(6). doi: 10.1084/jem.20211889. Epub 2022 Apr 28.
2
Mutations at the C-terminus of CDC42 cause distinct hematopoietic and autoinflammatory disorders.CDC42 羧基末端的突变导致不同的血液系统疾病和自身炎症性疾病。
J Allergy Clin Immunol. 2022 Jul;150(1):223-228. doi: 10.1016/j.jaci.2022.01.024. Epub 2022 Feb 12.
3
A Novel Mutation in an 11-Year Old Child Manifesting as Syndromic Immunodeficiency, Autoinflammation, Hemophagocytic Lymphohistiocytosis, and Malignancy: A Case Report.一例 11 岁患儿表现为综合征性免疫缺陷、自身炎症、噬血细胞性淋巴组织细胞增生症和恶性肿瘤的新型突变：病例报告。
Front Immunol. 2020 Mar 13;11:318. doi: 10.3389/fimmu.2020.00318. eCollection 2020.
4
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.
5
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.
6
Cdc42: A Novel Regulator of Insulin Secretion and Diabetes-Associated Diseases.Cdc42：胰岛素分泌和糖尿病相关疾病的新型调节剂。
Int J Mol Sci. 2019 Jan 6;20(1):179. doi: 10.3390/ijms20010179.

由两位携带 CDC42 基因突变的杂合子患者生成的人诱导多能干细胞（NIHTVBi029-A 和 NIHTVBi030-A）。

Human induced pluripotent stem cells (NIHTVBi029-A and NIHTVBi030-A) generated from two patients with a heterozygous mutation in the CDC42 gene.

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;80:103517. doi: 10.1016/j.scr.2024.103517. Epub 2024 Jul 30.

DOI:10.1016/j.scr.2024.103517
PMID:39106600
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11395911/
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.

摘要

诱导多能干细胞（iPSCs）是从两名 CDC42 基因突变杂合子患者的外周血单个核细胞中成功获得的。这两个 iPSC 系均表达多能性标记物，在体外分化为三个胚层，具有正常核型，并保留致病突变。所创建的 iPSC 系及其分化衍生物可能对研究疾病机制和治疗的生理学感兴趣。