从一名严重早发性肥胖症患者中生成的 iPSC 系 CUIMCi003-A。

Generation of the iPSC line CUIMCi003-A derived from a patient with severe early onset obesity.

机构信息

Division of Molecular Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA.

Columbia Stem Cell Initiative, Stem Cell Core, Columbia University Irving Medical Center, NY, USA.

出版信息

Stem Cell Res. 2021 Jul;54:102432. doi: 10.1016/j.scr.2021.102432. Epub 2021 Jun 21.

DOI:10.1016/j.scr.2021.102432

PMID:34214899

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8340056/

Abstract

Aryl hydrocarbon receptor nuclear translocator 2 (ARNT2) is a basic helix-loop-helix (bHLH/PAS) transcription factor involved in the development of paraventricular nucleus of the hypothalamus (PVH) through the heterodimerization with Single-minded 1 (SIM1) (Michaud et al., 2000). Using a Sendai virus-based approach, the four reprogramming factors OCT3/4, SOX2, KLF4 and C-MYC were delivered into Peripheral Blood Mononuclear Cell (PBMCs) from a 14-year-old girl with early onset obesity carrying a de novo variant (p.P130A) in ARNT2. The resulting iPSC line CUIMCi003-A had a normal karyotype, showed pluripotency and three germ layer differentiation capacity in vitro and was heterozygous for the de novo ARNT2 variant.

摘要

芳香烃受体核转位蛋白 2（ARNT2）是一种基本螺旋-环-螺旋（bHLH/PAS）转录因子，通过与单眼 1（SIM1）（Michaud 等人，2000 年）形成异二聚体参与下丘脑室旁核（PVH）的发育。利用仙台病毒载体方法，将四个重编程因子 OCT3/4、SOX2、KLF4 和 C-MYC 递送到一名 14 岁患有早发性肥胖症的女孩的外周血单核细胞（PBMC）中，该女孩携带 ARNT2 中的从头变异（p.P130A）。由此产生的 iPSC 系 CUIMCi003-A 具有正常核型，在体外显示出多能性和三个胚层分化能力，并且为从头 ARNT2 变异的杂合子。