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Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the...
by
Suleski, Isabella S.
,
Smith, Robert
,
Vo, Christina
,
Scriba, Carolin K.
,
Saker, Safaa
,
Larmonier, Thierry
,
Malfatti, Edoardo
,
Romero, Norma B.
,
Houweling, Peter J.
,
Nowak, Kristen J.
,
Laing, Nigel G.
,
Taylor, Rhonda L.
,
Clayton, Joshua S.
Published in
Stem cell research
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Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene
by
Clayton, Joshua S.
,
Suleski, Isabella
,
Vo, Christina
,
Smith, Robert
,
Scriba, Carolin K.
,
Saker, Safaa
,
Larmonier, Thierry
,
Malfatti, Edoardo
,
Romero, Norma B.
,
Houweling, Peter J.
,
Nowak, Kristen J.
,
Ravenscroft, Gianina
,
Laing, Nigel G.
,
Taylor, Rhonda L.
Published in
Stem cell research
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