Generation and characterization of an induced pluripotent stem cell line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy carrying c.4518+512T>A variant in the DMD gene
Generation and characterization of an induced pluripotent stem cell line (FJMUNi001-A) from a patient with Duchenne muscular dystrophy carrying c.4518+512T>A variant in the DMD gene
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来自携带 DMD 基因 c.4518 512T>A 变异的杜氏肌营养不良症患者的诱导多能干细胞系 (FJMUNi001-A) 的生成和表征
DOI：
10.1016/j.scr.2022.102718
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发表时间：
2022
影响因子：
1.2
通讯作者：
Ning Wang
中科院分区：
文献类型：
--
作者：
Ming Jin;Danni Wang;Guoling Li;Jiajia Lin;Xiang Lin;Ning Wang
杜氏肌营养不良症 (DMD) 是一种 X 连锁隐性退行性疾病，其特征是四肢进行性无力。在这项研究中，我们利用非整合仙台病毒从 DMD 患者的真皮成纤维细胞中产生了诱导多能干细胞系。该患者携带罕见的 c.4518 + 512 T > DMD 基因变异。该iPSC系显示出正常的iPSC形态、核型和多能性表达标记，并且还可以分化为三个胚层。
Duchenne muscular dystrophy (DMD) is an X-linked recessive degenerative disease characterized by progressive weakness of limbs. In this study, we generated an induced pluripotent stem cell line from a DMD patient's dermal fibroblasts with non-integrating Sendai virus. The patient carried a rare c.4518 + 512 T > A variant in the DMD gene. This iPSC line displayed normal iPSC morphology, karyotypes and pluripotency expression markers, and also can be differentiated into the three germ layers.