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淋巴母细胞系 - 源自一名26岁1型强直性肌营养不良患者的诱导多能干细胞系,该患者的DMPK基因存在(CTG)扩增:CHUQi001 - A。

Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG) expansion in the DMPK gene: CHUQi001-A.

作者信息

Martineau Laurie, Racine Véronique, Benichou Siham Ait, Puymirat Jack

机构信息

CHU de Québec-Université Laval Research Center, Quebec, Canada.

CHU de Québec-Université Laval Research Center, Quebec, Canada.

出版信息

Stem Cell Res. 2018 Jan;26:103-106. doi: 10.1016/j.scr.2017.12.010. Epub 2017 Dec 16.

Abstract

Human immortalized Epstein-Barr virus (EBV) lymphoblastoids cells line (LCLs) from a 26-year- old male affected by an adult form of myotonic dystrophy type 1 (DM1) disease and carrying 200 CTG repeats mutation in the blood was used to generate induced pluripotent stem cells (iPSCs) using the Sendai virus expressing KLF4, OCT4, SOX2 and C-MYC. The resulting iPSCs were EBV free, expressed the pluripotency markers, could be differentiated into the three germ layers in vitro, had a normal karyotype, and retained the genetic DM1 mutation. This iPSC line could be useful for the investigation of DM1 mechanisms.

摘要

从一名患有成年型1型强直性肌营养不良症(DM1)的26岁男性身上获取的人永生化爱泼斯坦-巴尔病毒(EBV)淋巴母细胞系(LCLs),其血液中携带200个CTG重复突变,利用表达KLF4、OCT4、SOX2和C-MYC的仙台病毒,将该细胞系用于生成诱导多能干细胞(iPSCs)。所得到的iPSCs不含EBV,表达多能性标志物,可在体外分化为三个胚层,具有正常核型,并保留了DM1基因的突变。该iPSC系可能有助于对DM1机制的研究。

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