从携带 SLC12A3 基因突变（c.179C>T）的 Gitelman 综合征患者中生成人诱导多能干细胞系（WMUi021-A）。
Generation of a human induced pluripotent stem cell line (WMUi021-A) from a Gitelman syndrome patient carrying a SLC12A3 gene mutation (c.179C > T).
机构信息
Center of Scientific Research, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China; Department of Pediatrics, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, China.
Department of Pediatric Endocrine Genetics and Metabolism, The Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University, Wenzhou, Zhejiang, China.
出版信息
Stem Cell Res. 2021 May;53:102280. doi: 10.1016/j.scr.2021.102280. Epub 2021 Mar 11.
Gitelman Syndrome (GS) is an inherited autosome recessive disorder syndrome, which can be caused by the gene mutations of solute carrier family 12 member 3 gene (SLC12A3). In present study, the urine cells (UCs) of a 7-year-old male GS patient with the homozygote SLC12A3 gene mutation p.T60M (c.179C > T) were reprogrammed into induced pluripotent stem cells (iPSCs) named WMUi021-A through the commercial Sendai virus reprogramming kit. The pluripotent markers OCT4 and SOX2 can be expressed positively in WMUi021-A, which can be differentiated into three germ layers in vitro as well as maintain a stable karyotype (46, XY).
Gitelman 综合征（GS）是一种常染色体隐性遗传性疾病，可由溶质载体家族 12 成员 3 基因（SLC12A3）的基因突变引起。在本研究中，通过商业性的 Sendai 病毒重编程试剂盒，将一位 7 岁男性 GS 患者的纯合子 SLC12A3 基因突变 p.T60M（c.179C>T）的尿细胞（UCs）重编程为诱导多能干细胞（iPSC），命名为 WMUi021-A。WMUi021-A 中可以阳性表达多能性标志物 OCT4 和 SOX2，并且可以在体外分化为三个胚层，同时保持稳定的核型（46，XY）。
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