Lymphoblast-derived integration-free iPSC lines from a female and male Alzheimer's disease patient expressing different copy numbers of a coding CNV in the Alzheimer risk gene CR1

来自女性和男性阿尔茨海默病患者的淋巴母细胞衍生的无整合 iPSC 系,在阿尔茨海默病风险基因 CR1 中表达不同拷贝数的编码 CNV

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作者:Friederike Schröter, Kristel Sleegers, Caroline Van Cauwenberghe, Martina Bohndorf, Wasco Wruck, Christine Van Broeckhoven, James Adjaye

Abstract

Human lymphoblast cells from a female and male patient diagnosed with Alzheimer's disease (AD) with different genotypes of a functional copy number variation (CNV) in the AD risk gene CR1 were used to generate integration-free induced pluripotent stem cells (iPSCs) employing episomal plasmids expressing OCT4, SOX2, NANOG, LIN28, c-MYC and L-MYC. The iPSCs retained the CR1 CNV, and comparative transcriptome analyses with the human embryonic stem cell line H1 revealed a Pearson correlation of 0.956 for AD1-CR10 and 0.908 for AD1-CR14.

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