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

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

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 CRISPR/Cas9 gene editing we corrected the mutation to generate an isogenic control line....

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Bibliographic Details
Main Authors: Peter J. Houweling, Chantal A. Coles, Chrystal F. Tiong, Bridget Nielsen, Alison Graham, Penny McDonald, Annabelle Suter, Adam T. Piers, Robin Forbes, Monique M. Ryan, Sara E. Howden, Shireen R. Lamandé, Kathryn N. North
Format: Article
Language:English
Published: Elsevier 2021-07-01
Series:Stem Cell Research
Online Access:http://www.sciencedirect.com/science/article/pii/S1873506121002762

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http://www.sciencedirect.com/science/article/pii/S1873506121002762

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