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


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 including SMCHD1. 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. Copyright © 2020 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Sasaki-Honda M, Kagita A, Jonouchi T, Araki T, Hotta A, Sakurai H
Journal Stem cell research
Publication Date 2020 Jun 24;47:101884
PubMed 32711388
DOI 10.1016/j.scr.2020.101884

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