Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

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

doi:10.1016/j.scr.2022.102830

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

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

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Abstract

Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 1-month-old male with severe NM caused by a homozygous recessive mutation in the ACTA1 gene (c.121C > T, p.Arg39Ter). The iPSC lines demonstrated typical morphology, expressed pluripotency markers, exhibited trilineage differentiation potential and displayed a normal karyotype. These isogenic lines represent a potential resource to investigate and model recessive ACTA1 disease in a human context.

Original language	English
Article number	102830
Journal	Stem Cell Research
Volume	63
DOIs	https://doi.org/10.1016/j.scr.2022.102830
Publication status	Published - Aug 2022

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Suleski, I. S., Smith, R., Vo, C., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Houweling, P. J., Nowak, K. J., Laing, N. G., Taylor, R. L., & Clayton, J. S. (2022). Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene. Stem Cell Research, 63, Article 102830. https://doi.org/10.1016/j.scr.2022.102830

@article{0063216446c6465e9ab23a6e22281c18,

title = "Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene",

abstract = "Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 1-month-old male with severe NM caused by a homozygous recessive mutation in the ACTA1 gene (c.121C > T, p.Arg39Ter). The iPSC lines demonstrated typical morphology, expressed pluripotency markers, exhibited trilineage differentiation potential and displayed a normal karyotype. These isogenic lines represent a potential resource to investigate and model recessive ACTA1 disease in a human context.",

author = "Suleski, {Isabella S.} and Robert Smith and Christina Vo 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 Laing, {Nigel G.} and Taylor, {Rhonda L.} and Clayton, {Joshua S.}",

note = "Funding Information: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Nigel G Laing reports financial support was provided by A Foundation Building Strength (AFBS). Kristen J Nowak reports financial support was provided by The French Muscular Dystrophy Association (AFM-Telethon). Funding Information: This work was supported by funding from the French Muscular Dystrophy Association (AFM-Telethon, REF-21816) to Kristen Nowak, and an A Foundation Building Strength Research Grant (ID-A3TR22, PI Nigel Laing). We also gratefully acknowledge funding from the Australian National Health and Medical Research Council, including a Principal Research Fellowship (APP1117510) to Nigel Laing. Publisher Copyright: {\textcopyright} 2022 The Authors",

year = "2022",

month = aug,

doi = "10.1016/j.scr.2022.102830",

language = "English",

volume = "63",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Pergamon",

}

Suleski, IS, Smith, R, Vo, C, Scriba, CK, Saker, S, Larmonier, T, Malfatti, E, Romero, NB, Houweling, PJ, Nowak, KJ , Laing, NG , Taylor, RL & Clayton, JS 2022, 'Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene', Stem Cell Research, vol. 63, 102830. https://doi.org/10.1016/j.scr.2022.102830

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene. / Suleski, Isabella S.; Smith, Robert; Vo, Christina et al.
In: Stem Cell Research, Vol. 63, 102830, 08.2022.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

AU - Suleski, Isabella S.

AU - Smith, Robert

AU - Vo, Christina

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 - Laing, Nigel G.

AU - Taylor, Rhonda L.

AU - Clayton, Joshua S.

N1 - Funding Information: The authors declare the following financial interests/personal relationships which may be considered as potential competing interests: Nigel G Laing reports financial support was provided by A Foundation Building Strength (AFBS). Kristen J Nowak reports financial support was provided by The French Muscular Dystrophy Association (AFM-Telethon). Funding Information: This work was supported by funding from the French Muscular Dystrophy Association (AFM-Telethon, REF-21816) to Kristen Nowak, and an A Foundation Building Strength Research Grant (ID-A3TR22, PI Nigel Laing). We also gratefully acknowledge funding from the Australian National Health and Medical Research Council, including a Principal Research Fellowship (APP1117510) to Nigel Laing. Publisher Copyright: © 2022 The Authors

PY - 2022/8

Y1 - 2022/8

N2 - Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 1-month-old male with severe NM caused by a homozygous recessive mutation in the ACTA1 gene (c.121C > T, p.Arg39Ter). The iPSC lines demonstrated typical morphology, expressed pluripotency markers, exhibited trilineage differentiation potential and displayed a normal karyotype. These isogenic lines represent a potential resource to investigate and model recessive ACTA1 disease in a human context.

AB - Nemaline myopathy (NM) is a congenital skeletal muscle disorder that typically results in muscle weakness and the presence of rod-like structures (nemaline bodies) in the sarcoplasma and/or in the nuclei of myofibres. Two induced pluripotent stem cell (iPSC) lines were generated from the lymphoblastoid cells of a 1-month-old male with severe NM caused by a homozygous recessive mutation in the ACTA1 gene (c.121C > T, p.Arg39Ter). The iPSC lines demonstrated typical morphology, expressed pluripotency markers, exhibited trilineage differentiation potential and displayed a normal karyotype. These isogenic lines represent a potential resource to investigate and model recessive ACTA1 disease in a human context.

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U2 - 10.1016/j.scr.2022.102830

DO - 10.1016/j.scr.2022.102830

M3 - Article

C2 - 35728440

AN - SCOPUS:85133286856

SN - 1873-5061

VL - 63

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102830

ER -

Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

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Improving outcomes for individuals and families affected by genetic disease

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Generation of two isogenic induced pluripotent stem cell lines from a 1-month-old nemaline myopathy patient harbouring a homozygous recessive c.121C > T (p.Arg39Ter) variant in the ACTA1 gene

Abstract

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Improving outcomes for individuals and families affected by genetic disease

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