从 Chédiak-Higashi 综合征患者中生成和表征人诱导多能干细胞系 SANi008-A。
Generation and characterization of a human iPSC line SANi008-A from a Chédiak-Higashi Syndrome patient.
机构信息
Department of Blood Cell Research, Sanquin Research, Amsterdam University Medical Center (AUMC), University of Amsterdam, Amsterdam, The Netherlands.
Department of Hematopoiesis, Sanquin Research, Amsterdam, The Netherlands.
出版信息
Stem Cell Res. 2021 Aug;55:102442. doi: 10.1016/j.scr.2021.102442. Epub 2021 Jun 24.
Induced pluripotent stem cells (iPSCs) were generated from erythroblasts (EBLs) obtained from a patient diagnosed with Chédiak-Higashi Syndrome (CHS), caused by mutations in LYST (c.4322_4325delAGAG and c.10127A>G). EBLs were reprogrammed with CytoTune-iPS 2.0 Sendai Reprogramming Kit, where the generated iPSCs showed normal karyotype, expression of pluripotency associated markers and in vitro spontaneous differentiation towards the three germ layers. The generated iPSCs can be used to study CHS pathophysiology and the role of LYST in different cell types.
诱导多能干细胞（iPSCs）是从一名患有 Chédiak-Higashi 综合征（CHS）的患者的红系细胞（EBLs）中生成的，这种疾病是由 LYST 基因突变引起的（c.4322_4325delAGAG 和 c.10127A>G）。使用 CytoTune-iPS 2.0 Sendai 重编程试剂盒对 EBLs 进行重编程，生成的 iPSCs 显示正常核型、多能性相关标志物的表达以及体外向三个胚层自发分化。生成的 iPSCs 可用于研究 CHS 发病机制以及 LYST 在不同细胞类型中的作用。
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