从携带SPINK5突变的Netherton综合征患者建立诱导多能干细胞系（SAHGMUi001-A）。
Establishment of an induced pluripotent stem cell line (SAHGMUi001-A) from a patient with Netherton syndrome carrying SPINK5 mutation.
作者信息
Xu Min, Wang Liang, Yin Jiawen, Xiong Jinglin, Guo Qing, Yang Wenlin
机构信息
Department of Dermatology, The Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, China.
Department of Neurology, National Key Clinical Department and Key Discipline of Neurology, The First Affiliated Hospital, Sun Yat-sen University, Guangzhou, China.
出版信息
Stem Cell Res. 2021 Mar;51:102213. doi: 10.1016/j.scr.2021.102213. Epub 2021 Jan 29.
Netherton syndrome (NS) is a rare, autosomal recessive hereditary skin disease caused by mutations in SPINK5 gene, characterized with severe skin barrier damage. A human induced pluripotent stem cell (iPSC) line has been established with electroporation method from urine-derived cells of a NS patient carrying a compound heterozygous mutation c.2260A > T (p.K754X) and c.2423C > T(p.T808I) in SPINK5 gene. This iPSC line may serve as a valuable model for the research of pathogenesis of NS, and the mechanisms and therapeutics for skin barrier damage.
Netherton综合征（NS）是一种罕见的常染色体隐性遗传性皮肤病，由SPINK5基因突变引起，其特征是严重的皮肤屏障损伤。利用电穿孔法，从一名携带SPINK5基因复合杂合突变c.2260A>T（p.K754X）和c.2423C>T（p.T808I）的NS患者的尿液衍生细胞中建立了人诱导多能干细胞（iPSC）系。该iPSC系可作为研究NS发病机制以及皮肤屏障损伤的机制和治疗方法的宝贵模型。
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