Table 2. DUX4 mRNA expression in FSHD and control cell lines.

Cell Code	Status	Haplotypes	Cell type A	DUX4-fl	DUX4-s	3-prime
MB73	FSHD	A161(8)B/161C	MB	X	X	X
MB183	FSHD	A161(5)/B163	MB	X	O	X
MB148	FSHD	A161(3)/A161	MB	X	O	X
MB200	FSHD2	A161(14)/B168	MB	X	XS	X
MB216	FSHD	A161(6)/A168	MB	O	O	O
MB219	FSHD	A161(5)/B168	MB	O	O	O
MB230	contr	A161/163A	MB	O	X	O
MB196	contr	A161/163A	MB	O	X	O
MB226	contr	A161/A161	MB	O	X	O
MB135	contr	A161/B163	MB	O	XS	O
MB73	FSHD	A161/161	MT	X	X	XS
MB183	FSHD	A161/B163	MT	X	O	X
MB148	FSHD	A161/A161	MT	X	O	XS
MB200	FSHD2	A161/B168	MT	XS	O	XS
MB216	FSHD	A161/A168	MT	X	O	XS
MB219	FSHD	A161/B168	MT	X	O	X
MB230	contr	A161/163A	MT	O	X	O
MB196	contr	A161/163A	MT	O	X	O
MB226	contr	A161/A161	MT	O	X	O
MB135	contr	A161/B163	MT	O	X	O
M83-9	contr	A161/168A	fibro	O	XS	O
M83-9	contr		iPS	XS	O	X
M83-9	contr		EB	O	X	O
43-1	FSHD	A161(5)/A161	fibro	XS	O	O
43-1	FSHD		iPS	XS	O	X
43-1	FSHD		EB	X	O	XS
83-6	FSHD	A161(7)/B168	fibro	XS	XS	X
83-6	FSHD		iPS	X	O	X
83-6	FSHD		EB	X	O	XS

^AMB, myoblasts; MT, myotubes; fibro, fibroblasts; iPS, induced pleuripotent stem cells, EB, embryoid bodies.

^BNumber of repeats on contracted allele, if known.

^CAssignment of the second 4q allele variant is incomplete.

n.d., not tested; X, product present; XS, product sequenced; O, product absent.