Generation of a transgene-free iPSC line and genetically modified line from a facioscapulohumeral muscular dystrophy type 2 (FSHD2) patient with SMCHD1 p.Lys607Ter mutation
Generation of a transgene-free iPSC line and genetically modified line from a facioscapulohumeral muscular dystrophy type 2 (FSHD2) patient with SMCHD1 p.Lys607Ter mutation
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从具有 SMCHD1 p.Lys607Ter 突变的 2 型面肩肱型肌营养不良症 (FSHD2) 患者中生成无转基因 iPSC 系和转基因系
DOI：
10.1016/j.scr.2020.101884
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发表时间：
2020
影响因子：
1.2
通讯作者：
Sakurai Hidetoshi
中科院分区：
文献类型：
--
作者：
Sasaki-Honda Mitsuru;Kagita Akihiro;Jonouchi Tatsuya;Araki Toshiyuki;Hotta Akitsu;Sakurai Hidetoshi
2型面肩肱骨肌营养不良症（FSHD2）约占FSHD病例总数的5%，其症状与1型FSHD （FSHD1）相同，由包括smchd1在内的各种基因突变引起。我们报道了从携带SMCHD1 p.Lys607Ter突变的FSHD2患者获得的iPSC系及其基因校正的无转基因iPSC系的产生和特性。这些iPSC细胞系保持正常核型，形态典型，表达内源性多能性标记，可分化为外胚层、中胚层和内胚层细胞，证实了其多能性。
Facioscapulohumeral muscular dystrophy type2 (FSHD2), which constitutes approximately 5% of total FSHD cases and develops the same symptoms as FSHD type 1 (FSHD1), is caused by various mutations in genes includingSMCHD1. We report the generation and characterization of an iPSC line derived from an FSHD2 patient carrying the SMCHD1 p.Lys607Ter mutation and its gene-corrected iPSC line which are free from transgene. These iPSC lines maintained normal karyotype, presented typical morphology, expressed endogenous pluripotency markers, and could be differentiated into ectodermal, mesodermal and endodermal cells, confirming their pluripotency.