来自一名携带纯合NBN基因c.657_661del5突变的18岁尼曼匹克氏病（奈梅亨断裂综合征）患者的成纤维细胞来源的无整合诱导多能干细胞系ISRM-NBS1 。
Fibroblast-derived integration-free iPSC line ISRM-NBS1 from an 18-year-old Nijmegen Breakage Syndrome patient carrying the homozygous NBN c.657_661del5 mutation.
作者信息
Martins Soraia, Bohndorf Martina, Graffmann Nina, Wruck Wasco, Chrzanowska Krystyna H, 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.
Department of Medical Genetics, Children's Memorial Health Institute, Warsaw, Poland.
出版信息
Stem Cell Res. 2019 Jan;34:101372. doi: 10.1016/j.scr.2018.101372. Epub 2018 Dec 27.
Human fibroblasts cells from a female diagnosed with Nijmegen Breakage Syndrome (NBS) carrying the homozygous NBN c.657_661del5 mutation were used to generate integration-free induced pluripotent stem cells (iPSCs) by over-expressing episomal-based plasmids harbouring OCT4, SOX2, NANOG, KLF4, c-MYC and LIN28. The derived iPSC line - ISRM-NBS1 was defined as pluripotent based on (i) expression of pluripotency-associated markers (ii) embryoid body-based differentiation into cell types representative of the three germ layers and (iii) the similarity between the transcriptome of the iPSC line and the human embryonic stem cell line H1 with a Pearson correlation of 0.955.
从一名被诊断患有尼美根断裂综合征（NBS）且携带纯合NBN c.657_661del5突变的女性身上获取人成纤维细胞，通过过表达携带OCT4、SOX2、NANOG、KLF4、c-MYC和LIN28的游离型质粒来生成无整合诱导多能干细胞（iPSC）。基于以下几点，所衍生的iPSC系 - ISRM-NBS1被定义为多能性：（i）多能性相关标志物的表达；（ii）基于胚状体向代表三个胚层的细胞类型分化；（iii）iPSC系的转录组与人类胚胎干细胞系H1之间的相似性，皮尔逊相关系数为0.955。
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