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源自一名携带p.I244T突变的I型原发性高草酸尿症患者的人诱导多能干细胞系的生成与鉴定

Generation and characterization of human iPSC lines derived from a Primary Hyperoxaluria Type I patient with p.I244T mutation.

作者信息

Zapata-Linares Natalia, Rodriguez Saray, Salido Eduardo, Abizanda Gloria, Iglesias Elena, Prosper Felipe, Gonzalez-Aseguinolaza Gloria, Rodriguez-Madoz Juan R

机构信息

Cell Therapy Program, Center for Applied Medical Research (CIMA), University of Navarra, Instituto de Investigación Sanitaria de Navarra, IdiSNA, Pamplona, Spain.

Hospital Universitario de Canarias, Universidad La Laguna, Centre for Biomedical Research on Rare Diseases (CIBERER), Tenerife, Spain.

出版信息

Stem Cell Res. 2016 Jan;16(1):116-9. doi: 10.1016/j.scr.2015.12.014. Epub 2015 Dec 28.

Abstract

In this work we describe for the first time the generation and characterization of human induced pluripotent stem cells (hiPSCs) from peripheral blood mononuclear cells (PBMCs) and dermal fibroblasts of a Primary Hyperoxaluria Type I (PH1)-diagnosed patient with p.I244T mutation, which is highly prevalent in Canary Islands due to founder effect. Cell reprogramming was performed using non-integrative Sendai viruses containing the Yamanaka factors and the generated PH1-hiPSC lines (PH1-PBMCs-hiPSC4F1 and PH1-Fib-hiPSC4F1) showed normal karyotypes, silencing of the exogenous reprogramming factors, induction of the typical pluripotency-associated markers and in vivo differentiation ability to the three germ layers.

摘要

在本研究中,我们首次描述了从一名原发性高草酸尿症I型(PH1)诊断患者的外周血单核细胞(PBMC)和真皮成纤维细胞中生成并鉴定人诱导多能干细胞(hiPSC)的过程。该患者存在p.I244T突变,由于奠基者效应,这种突变在加那利群岛非常普遍。使用含有山中因子的非整合仙台病毒进行细胞重编程,所生成的PH1-hiPSC系(PH1-PBMCs-hiPSC4F1和PH1-Fib-hiPSC4F1)显示出正常的核型、外源重编程因子的沉默、典型多能性相关标志物的诱导以及在体内向三个胚层分化的能力。

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