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
STEM CELL RESEARCH
Authors: Sasaki-Honda, Mitsuru; Kagita, Akihiro; Jonouchi, Tatsuya; Araki, Toshiyuki; Hotta, Akitsu; Sakurai, Hidetoshi
Abstract
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.
Inflammatory facioscapulohumeral muscular dystrophy type 2 in 18p deletion syndrome
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Authors: Renard, Dimitri; Taieb, Guillaume; Garibaldi, Matteo; De Paula, Andre Maues; Bernard, Rafaelle; Lagha, Nadira; Cristofari, Gael; Vovan, Catherine; Chaix, Charlene; Levy, Nicolas; Van Kien, Philippe Khau; Sacconi, Sabrina
Abstract
Facioscapulohumeral muscular dystrophy (FSHD) has been shown to be related to genetic and epigenetic derepression of DUX4 (mapping to chromosome 4), a gene located within a repeat array of D4Z4 sequences of polymorphic length. FSHD type 1 (FSHD1) is associated with pathogenic D4Z4 repeat array contraction, while FSHD type 2 (FSHD2) is associated with SMCHD1 variants (a chromatin modifier gene that maps to the short arm of chromosome 18). Both FSHD types require permissive polyadenylation signal (4qA) downstream of the D4Z4 array.
COA
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