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从一名在KHSRP、LRRC7和KIR2DL1基因中携带新生突变的男性精神分裂症患者及其父母身上生成多个诱导多能干细胞克隆。

Generation of multiple iPSC clones from a male schizophrenia patient carrying de novo mutations in genes KHSRP, LRRC7, and KIR2DL1, and his parents.

作者信息

Hathy Edit, Szabó Eszter, Vincze Katalin, Haltrich Irén, Kiss Eszter, Varga Nóra, Erdei Zsuzsa, Várady György, Homolya László, Apáti Ágota, Réthelyi János M

机构信息

Molecular Psychiatry Research Group, National Brain Research Program (NAP), Hungarian Academy of Sciences and Semmelweis University, Hungary; Department of Psychiatry and Psychotherapy, Semmelweis University, Budapest, Hungary.

Institute of Enzymology, Research Center for Natural Sciences, Eötvös Loránd Research Network, Hungary.

出版信息

Stem Cell Res. 2021 Mar;51:102140. doi: 10.1016/j.scr.2020.102140. Epub 2020 Dec 25.

Abstract

Here we describe the generation of induced pluripotent stem cell lines from each member - male proband, mother, father - of a schizophrenia case-parent trio that participated in an exome sequencing study, and 3 de novo mutations were identified in the proband. Peripheral blood mononuclear cells were obtained from all three individuals and reprogrammed using Sendai virus particles carrying the Yamanaka transgenes. These 3 iPSC lines (iPSC-SZ-HU-MO 1, iPSC-SZ-HU-FA 1, and iPSC-SZ-HU-PROB 1) represent a resource for examining the functional significance of the identified de novo mutations in the molecular pathophysiology of schizophrenia.

摘要

在此,我们描述了从参与外显子组测序研究的一个精神分裂症病例-父母三联体的每个成员——男性先证者、母亲、父亲——中生成诱导多能干细胞系的过程,并在先证者中鉴定出3个新发突变。从这三人身上获取外周血单个核细胞,并使用携带山中伸弥转基因的仙台病毒颗粒进行重编程。这3个诱导多能干细胞系(iPSC-SZ-HU-MO 1、iPSC-SZ-HU-FA 1和iPSC-SZ-HU-PROB 1)为研究精神分裂症分子病理生理学中已鉴定的新发突变的功能意义提供了一种资源。

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