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

Joshua S. Clayton; Isabella Suleski; Christina Vo; Robert Smith; Carolin K. Scriba; Safaa Saker; Thierry Larmonier; Edoardo Malfatti; Norma B. Romero; Peter J. Houweling; Kristen J. Nowak; Gianina Ravenscroft; Nigel G. Laing; Rhonda L. Taylor

doi:10.1016/j.scr.2022.102829

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

Joshua S. Clayton, Isabella Suleski, Christina Vo, Robert Smith, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Peter J. Houweling, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

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Abstract

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.

Original language	English
Article number	102829
Journal	Stem Cell Research
Volume	63
DOIs	https://doi.org/10.1016/j.scr.2022.102829
Publication status	Published - Aug 2022

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10.1016/j.scr.2022.102829Licence: CC BY-NC-ND

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Clayton, J. S., Suleski, I., Vo, C., Smith, R., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Houweling, P. J., Nowak, K. J., Ravenscroft, G., Laing, N. G., & Taylor, R. L. (2022). 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. Stem Cell Research, 63, Article 102829. https://doi.org/10.1016/j.scr.2022.102829

@article{061fd37a6b684f8ba005a0344ae50683,

title = "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",

abstract = "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.",

author = "Clayton, {Joshua S.} and Isabella Suleski and Christina Vo and Robert Smith and Scriba, {Carolin K.} and Safaa Saker and Thierry Larmonier and Edoardo Malfatti and Romero, {Norma B.} and Houweling, {Peter J.} and Nowak, {Kristen J.} and Gianina Ravenscroft and Laing, {Nigel G.} and Taylor, {Rhonda L.}",

year = "2022",

month = aug,

doi = "10.1016/j.scr.2022.102829",

language = "English",

volume = "63",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Pergamon",

}

Clayton, JS, Suleski, I, Vo, C, Smith, R, Scriba, CK, Saker, S, Larmonier, T, Malfatti, E, Romero, NB, Houweling, PJ, Nowak, KJ , Ravenscroft, G , Laing, NG & Taylor, RL 2022, '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', Stem Cell Research, vol. 63, 102829. https://doi.org/10.1016/j.scr.2022.102829

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T1 - 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

AU - Clayton, Joshua S.

AU - Suleski, Isabella

AU - Vo, Christina

AU - Smith, Robert

AU - Scriba, Carolin K.

AU - Saker, Safaa

AU - Larmonier, Thierry

AU - Malfatti, Edoardo

AU - Romero, Norma B.

AU - Houweling, Peter J.

AU - Nowak, Kristen J.

AU - Ravenscroft, Gianina

AU - Laing, Nigel G.

AU - Taylor, Rhonda L.

PY - 2022/8

Y1 - 2022/8

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AB - 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.

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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

Abstract

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Improving outcomes for individuals and families affected by genetic disease

Gene discovery and pathobiology in muscle diseases

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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

Abstract

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Projects

Improving outcomes for individuals and families affected by genetic disease

Gene discovery and pathobiology in muscle diseases

Cite this