Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene
Generation of the human induced pluripotent stem cell line (ZJUi005-A) from a patient with Pelizaeus-Merzbacher disease (PMD) carrying a novel hemizygous mutation in PLP1 gene
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从 PLP1 基因中携带新型半合子突变的佩利扎乌斯-梅茨巴赫病 (PMD) 患者中产生人类诱导多能干细胞系 (ZJUi005-A)
DOI：
10.1016/j.scr.2020.101791
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发表时间：
2020
影响因子：
1.2
通讯作者：
Dong Minyue
中科院分区：
文献类型：
--
作者：
Liu Bei;Chen Lang;Sun Jian;Zhang Li;Chen Min;Qian Yeqing;Wang Yanlin;Yan Kai;Hou Linxiao;Huang Yingzhi;Zhang Dan;Xu Yuming;Yu Jialing;Zhang Jin;Dong Minyue
Pelizaeus-Merzbacher病（PMD）是一种罕见的X连锁脑白质营养不良，由蛋白脂质蛋白1基因（PLP 1）突变引起，该基因特异性表达于少突胶质细胞的髓鞘上。我们利用附加型重编程质粒，从一名18岁男性PMD患者的外周血单个核细胞中建立了一个诱导多能干细胞（iPSC）系（ZJUi 005-A），该患者在PLP 1基因中存在一个新的半合子c.437T>C突变。ZJUi 005-A iPSC系携带PLP 1突变，表达多能性标记，核型正常，体外显示分化潜能。
Pelizaeus-Merzbacher disease (PMD) is a rare X-linked leukodystrophy caused by mutations in the proteolipid protein 1 gene (PLP1) which is specifically expressed on the myelin sheath of oligodendrocytes. We established an induced pluripotent stem cell (iPSC) line (ZJUi005-A) from peripheral blood mononuclear cells of an 18-year-old male PMD patient with a novel hemizygous c.437T>C mutation inPLP1gene using episomal reprogramming plasmids. The ZJUi005-A iPSC line carried thePLP1mutation, expressed pluripotency markers, exhibited normal karyotype and showed differentiation potential in vitro.