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Generating an iPSC line (with isogenic control) from the PBMCs of an ACTA1 (p.Gly148Asp) nemaline myopathy patient.

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1 Published in 2021 at "Stem cell research"

DOI: 10.1016/j.scr.2021.102429

Abstract: To produce an in vitro model of nemaline myopathy, we reprogrammed the peripheral blood mononuclear cells (PBMCs) of a patient with a heterozygous p.Gly148Asp mutation in exon 3 of the ACTA1 gene to iPSCs. Using… read more here.

Keywords: generating ipsc; control; nemaline myopathy; isogenic control ... See more keywords