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

Stem cell research - 1 Jul 2021

Houweling Peter J, Coles Chantal A, Tiong Chrystal F, Nielsen Bridget, Graham Alison, McDonald Penny, Suter Annabelle, Piers Adam T, Forbes Robin, Ryan Monique M, Howden Sara E, Lamandé Shireen R, North Kathryn N

Abstract excerpt

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. Both the mutant and control show a normal karyotype, express pluripotency markers and could differentiae into the...

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Identifiers

PMID: 34157503
DOI: 10.1016/j.scr.2021.102429

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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