Generation of two isogenic induced pluripotent stem cell lines from a 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene


Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of nemaline bodies in myofibres. Approximately 25% of NM cases are caused by variants in ACTA1. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 10-year-old female with typical NM harbouring a dominant pathogenic variant in ACTA1 (c.541C>A). The isogenic lines displayed typical iPSC morphology, expressed pluripotency markers, and could differentiate into each of the three germ layers. Although the lines have partial or complete X chromosome duplication, they may still prove useful as models of human ACTA1 disease. Copyright © 2021 The Authors. Published by Elsevier B.V. All rights reserved.

Authors Clayton JS, Scriba CK, Romero NB, Malfatti E, Saker S, Larmonier T, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL
Journal Stem cell research
Publication Date 2021 Aug;55:102482
PubMed 34388489
DOI 10.1016/j.scr.2021.102482

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