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. Both the mutant and control show a normal karyotype, express pluripotency markers and could differentiae into the three cell states that represent embryonic germ layers (endoderm, mesoderm and neuroectoderm) and the dermomyotome (precursor of skeletal muscle). When differentiated these cell lines will be used to explore disease mechanisms and evaluate novel therapeutics. Copyright © 2021 The Author(s). Published by Elsevier B.V. All rights reserved.

Authors Houweling PJ, Coles CA, Tiong CF, Nielsen B, Graham A, McDonald P, Suter A, Piers AT, Forbes R, Ryan MM, Howden SE, Lamandé SR, North KN
Journal Stem cell research
Publication Date 2021 Jul;54:102429
PubMed 34157503
DOI 10.1016/j.scr.2021.102429

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