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Generation of multiple iPSC clones from a male schizophrenia patient carrying de novo mutations in genes KHSRP, LRRC7, and KIR2DL1, and his parents
Stem Cell Research ( IF 0.8 ) Pub Date : 2020-12-25 , DOI: 10.1016/j.scr.2020.102140
Edit Hathy 1 , Eszter Szabó 2 , Katalin Vincze 1 , Irén Haltrich 3 , Eszter Kiss 3 , Nóra Varga 2 , Zsuzsa Erdei 2 , György Várady 2 , László Homolya 2 , Ágota Apáti 2 , János M Réthelyi 1
Affiliation  

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.



中文翻译:

从携带基因KHSRP,LRRC7和KIR2DL1的从头突变的男性精神分裂症患者及其父母产生多个iPSC克隆

在这里,我们描述了参与外显子组测序研究的精神分裂症病例-父母三人组的每个成员(男性先证者,母亲,父亲)诱导多能干细胞系的产生,并在先证者中鉴定了3个从头突变。从所有三个人获得外周血单核细胞,并使用携带山中转基因的仙台病毒颗粒对其进行重编程。这3条iPSC品系(iPSC-SZ-HU-MO 1,iPSC-SZ-HU-FA 1和iPSC-SZ-HU-PROB 1)代表了一种资源,可用于检查分子中从头突变的功能重要性精神分裂症的病理生理学。

更新日期:2021-01-25
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