Table 1.

Overview of the current publications using hiPSC-derived DMD myogenic cultures.

Reference	Cell line	Differentiation protocol	Myogenic markers detected in DMD- hiPSC myogenic cultures (protein)	Myogenic differentiation	DMD Phenotype in vitro	Engraftment
Goudenege et al., 2012	DMD patient hiPSC and healthy controls	MYOD1 overexpression (Adenovirus)	MYOD1, MHC, Spectrin, Lamin A/C	Similar to control	Larger myotubes compared to healthy controls	Performed in rag/mdx mice with/without cardiotoxin. Documented presence of hybrid myofibers
Abujarour et al., 2014	DMD patient hiPSCs and healthy controls	Doxycycline-dependent MYOD1 overexpression (Lentivirus)	MHC, MYOD1, MYOG, NCAM, CD44, CD29	Similar to control		No
Shoji et al., 2015	DMD patient hiPSCs and healthy controls treated or not with exon-skipping oligonucle otides	Tetracycline-dependent MYOD1 overexpression (PiggyBac vector)	CKM, MHC, Skeletal Muscle Actin	Similar to control	Excess of calcium flux (Fluo-8 dye) upon electrical stimulation	No
Young et al., 2016	DMD patient hiPSCs and CRISPR edited version rescued by deletion of exon 45-55	Tamoxifen-dependent MYOD1 overexpression (Lentivirus) or Shelton et al. (2014) directed differentiation protocol	MHC, NCAM, Spectrin, Lamin A/C	Similar to control	β-dystroglycan downregulation and mislocalization	Performed in NOD-SCID-IL2rgnull (NSG)-mdx mice with cardiotoxin. Documented presence of engrafted myofibers by human Spectrin and Lamin A/C expression
Choi et al., 2016	DMD patient hiPSCs, healthy controls and correction with human artificial chromoso me expressing DMD	CHIR/DAPT treatment in N2 medium, replating and FACS sorting of NCAM+/HNK1− cells	Desmin, Lamin A/C, Laminin	Defective	Decreased fusion and myogenic marker expression. Absence of spontaneous contractions. Increased branching. Increased levels of BMP4 and TGFβ signaling. Increased expression of interleukins 6 and 8 and collagen 3	Performed in NOD-Rag1nu11 IL2rgnu11 (NRG) mice and NSG-mdx mice after cardiotoxin. Comparable levels of human myofiber formation in both models
Maffioletti et al., 2018	DMD Patient hiPSC lines and healthy controls	Tamoxifen-dependent MYOD1 overexpression (Lentivirus) or directed differentiation (Caron et al., 2016) and 3D constructs	Laminin, Lamin A/C, MHC, Sarcomeric actin	Similar to control		Performed in NSG mice previously injured. Documented presence of engrafted myofibers by human Lamin A/C and embryonic MHC expression
Caputo et al., 2020	DMD patient hiPSC lines and healthy controls	Doxycycline-dependent MYOD1 and BAF60C overexpression (PiggyBac vector)	MYOD1, Desmin, MHC	Similar to control	DMD hiPSC-derived myotubes exhibit constitutive activation of TGFβ-SMAD2/3 signaling. Electrically paced DMD hiPSC-derived myotubes exhibit greater and persistent increase in the expression of pro-fibrotic genes (TGFβ1, TGFβ2, IL6, and CTGF)	No
Moretti et al., 2020	DMD patient hiPSC line, CRISPR edited version rescued by deletion of exon 51 and healthy control	Commercial kit Amsbio; SKM-KITM	Not detected	Defective	No multinucleated myotubes	No
Al Tanoury et al., 2020	DMD patient hiPSC, CRISPR edited version rescued, CRISPR-engineered DMD mutants and isogenic healthy parental control	Directed differentiation (Chal et al., 2015, 2016)	MYOG, Desmin, Titin, α-actinin, NCAM, nNOS, DAG1 and delta-Sarcoglycan	Defective	Increased branching and fusion. Mislocalization of proteins of the Dystrophin-associated Glycoprotein Complex. Force contraction defects and Ca2+ hyper-excitability	No