I型克里格勒-纳贾尔综合征患者来源的诱导多能干细胞系CNS705（HHUUKDi005-A）的产生。
Generation of a Crigler-Najjar Syndrome Type I patient-derived induced pluripotent stem cell line CNS705 (HHUUKDi005-A).
作者信息
Graffmann Nina, Martins Soraia, Ljubikj Tijana, Matte Julie Carole, Bohndorf Martina, Wruck Wasco, Adjaye James
机构信息
Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
Institute for Stem Cell Research and Regenerative Medicine, Medical Faculty, Heinrich-Heine-University Düsseldorf, Moorenstr. 5, 40225 Düsseldorf, Germany.
出版信息
Stem Cell Res. 2021 Mar;51:102167. doi: 10.1016/j.scr.2021.102167. Epub 2021 Jan 12.
Human fibroblasts cells from a Crigler-Najjar Syndrome (CNS) patient were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids expressing OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28. The derived CNS705-iPSC line is homozygous for the UGT1A1 c.877_890delTACATTAATGCTTCinsA mutation. Pluripotency was confirmed by the expression of associated markers and embryoid body-based differentiation into cell types from all three germ layers. Comparative transcriptome analysis of the iPSC and the human embryonic stem cell line H9 revealed a Pearson's correlation of 0.9468.
来自克里格勒 - 纳贾尔综合征（CNS）患者的人成纤维细胞通过过表达基于附加体的质粒来生成无整合诱导多能干细胞（iPSC），这些质粒表达OCT4、SOX2、NANOG、KLF4、c-MYC和LIN28。衍生的CNS705-iPSC系对于UGT1A1 c.877_890delTACATTAATGCTTCinsA突变是纯合的。通过相关标志物的表达以及基于胚状体向所有三个胚层的细胞类型分化来确认多能性。对iPSC和人胚胎干细胞系H9的比较转录组分析显示皮尔逊相关系数为0.9468。
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