Generation of an induced pluripotent stem cell line from a 3-month-old nemaline myopathy patient with a heterozygous dominant c.515C > A (p.Ala172Glu) variant in the ACTA1 gene

Variants in the ACTA1 gene are a common cause of nemaline myopathy (NM); a muscle disease that typically presents at birth or early childhood with hypotonia and muscle weakness. Here, we generated an induced pluripotent stem cell line (iPSC) from lymphoblastoid cells of a 3-month-old female patient...

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Published in:Stem cell research 2022-08, Vol.63, p.102829-102829, Article 102829
Main Authors: Clayton, Joshua S., Suleski, Isabella, Vo, Christina, Smith, Robert, Scriba, Carolin K., Saker, Safaa, Larmonier, Thierry, Malfatti, Edoardo, Romero, Norma B., Houweling, Peter J., Nowak, Kristen J., Ravenscroft, Gianina, Laing, Nigel G., Taylor, Rhonda L.
Format: Article
Language:English
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Summary:Variants in the ACTA1 gene are a common cause of nemaline myopathy (NM); a muscle disease that typically presents at birth or early childhood with hypotonia and muscle weakness. Here, we generated an induced pluripotent stem cell line (iPSC) from lymphoblastoid cells of a 3-month-old female patient with intermediate NM caused by a dominant ACTA1 variant (c.515C > A (p.Ala172Glu)). iPSCs showed typical morphology, expressed pluripotency markers, demonstrated trilineage differentiation potential, and had a normal karyotype. This line complements our previously published ACTA1 iPSC lines derived from patients with typical and severe NM.
ISSN:1873-5061
1876-7753
DOI:10.1016/j.scr.2022.102829