Article
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 ACTA1 gene.
Stem cell research - 1 Aug 2022
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
Abstract excerpt
Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 1-month-old male with severe NM caused by a homozygous recessive mutation in the ACTA1 gene...
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