Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the DMPK gene: CHUQi001-A
Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the DMPK gene: CHUQi001-A
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DOI：
10.1016/j.scr.2017.12.010
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发表时间：
2018-01-01
影响因子：
1.2
通讯作者：
Puymirat, Jack
中科院分区：
文献类型：
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作者：
Martineau, Laurie;Racine, Veronique;Puymirat, Jack
人永生化EB病毒(EBV)淋巴母细胞系(LCLS)取自一名26岁成年强直性肌营养不良1型(DM1)病患者，血液中携带200个CTG重复突变，用表达KLF4、OCT4、SOX2和C-MYC的仙台病毒诱导多能干细胞(IPSCs)。所获得的IPSCs不携带EB病毒，表达多能性标记，在体外可分化为三层胚层，具有正常的核型，并保留了DM1基因突变。这条IPSC线可用于DM1机制的研究。(C)2017年作者。爱思唯尔出版公司(Elsevier B.V.)
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. (c) 2017 The Authors. Published by Elsevier B.V.