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.

Mitsuru Sasaki-Honda,Akihiro Kagita,Tatsuya Jonouchi,Toshiyuki Araki,Akitsu Hotta,Hidetoshi Sakurai

Stem Cell Research（2020）

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摘要

•An FSHD2 patient-derived iPSC line with SMCHD1 mutation was generated.•The gene-corrected iPSC clone was also generated.•These clones are transgene-free and maintain normal karyotypes.

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