Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Joshua S. Clayton; Carolin K. Scriba; Norma B. Romero; Edoardo Malfatti; Safaa Saker; Thierry Larmonier; Kristen J. Nowak; Gianina Ravenscroft; Nigel G. Laing; Rhonda L. Taylor

doi:10.1016/j.scr.2021.102273

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Joshua S. Clayton, Carolin K. Scriba, Norma B. Romero, Edoardo Malfatti, Safaa Saker, Thierry Larmonier, Kristen J. Nowak, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

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Abstract

Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants in the skeletal muscle alpha actin gene, ACTA1, cause approximately 25% of all NM cases. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 4-month-old female with severe NM harbouring a dominant variant in ACTA1 (c.553C > A). The isogenic lines displayed characteristic iPSC morphology, expressed pluripotency markers, differentiated into cells of all three germ layers, and possessed normal karyotypes. These lines could be useful models of human ACTA1 disease.

Original language	English
Article number	102273
Journal	Stem Cell Research
Volume	53
DOIs	https://doi.org/10.1016/j.scr.2021.102273
Publication status	Published - May 2021

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Gene discovery and pathobiology in muscle diseases
Ravenscroft, G.
National Health & Medical Research Council NHMRC
1/01/17 → 30/09/22
Project: Research

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Clayton, J. S., Scriba, C. K., Romero, N. B., Malfatti, E., Saker, S., Larmonier, T., Nowak, K. J., Ravenscroft, G., Laing, N. G., & Taylor, R. L. (2021). Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene. Stem Cell Research, 53, [102273]. https://doi.org/10.1016/j.scr.2021.102273

Clayton, Joshua S. ; Scriba, Carolin K. ; Romero, Norma B. ; Malfatti, Edoardo ; Saker, Safaa ; Larmonier, Thierry ; Nowak, Kristen J. ; Ravenscroft, Gianina ; Laing, Nigel G. ; Taylor, Rhonda L. / Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene. In: Stem Cell Research. 2021 ; Vol. 53.

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title = "Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene",

abstract = "Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants in the skeletal muscle alpha actin gene, ACTA1, cause approximately 25% of all NM cases. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 4-month-old female with severe NM harbouring a dominant variant in ACTA1 (c.553C > A). The isogenic lines displayed characteristic iPSC morphology, expressed pluripotency markers, differentiated into cells of all three germ layers, and possessed normal karyotypes. These lines could be useful models of human ACTA1 disease.",

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

year = "2021",

month = may,

doi = "10.1016/j.scr.2021.102273",

language = "English",

volume = "53",

journal = "Stem Cell Research",

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Clayton, JS, Scriba, CK, Romero, NB, Malfatti, E, Saker, S, Larmonier, T, Nowak, KJ , Ravenscroft, G , Laing, NG & Taylor, RL 2021, 'Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene', Stem Cell Research, vol. 53, 102273. https://doi.org/10.1016/j.scr.2021.102273

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene. / Clayton, Joshua S.; Scriba, Carolin K.; Romero, Norma B.; Malfatti, Edoardo; Saker, Safaa; Larmonier, Thierry; Nowak, Kristen J.; Ravenscroft, Gianina ; Laing, Nigel G.; Taylor, Rhonda L.

In: Stem Cell Research, Vol. 53, 102273, 05.2021.

Research output: Contribution to journal › Article

TY - JOUR

T1 - Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

AU - Clayton, Joshua S.

AU - Scriba, Carolin K.

AU - Romero, Norma B.

AU - Malfatti, Edoardo

AU - Saker, Safaa

AU - Larmonier, Thierry

AU - Nowak, Kristen J.

AU - Ravenscroft, Gianina

AU - Laing, Nigel G.

AU - Taylor, Rhonda L.

PY - 2021/5

Y1 - 2021/5

N2 - Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants in the skeletal muscle alpha actin gene, ACTA1, cause approximately 25% of all NM cases. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 4-month-old female with severe NM harbouring a dominant variant in ACTA1 (c.553C > A). The isogenic lines displayed characteristic iPSC morphology, expressed pluripotency markers, differentiated into cells of all three germ layers, and possessed normal karyotypes. These lines could be useful models of human ACTA1 disease.

AB - Nemaline myopathy (NM) is a congenital myopathy typically characterized by skeletal muscle weakness and the presence of abnormal thread- or rod-like structures (nemaline bodies) in myofibres. Pathogenic variants in the skeletal muscle alpha actin gene, ACTA1, cause approximately 25% of all NM cases. We generated two induced pluripotent stem cell lines from lymphoblastoid cells of a 4-month-old female with severe NM harbouring a dominant variant in ACTA1 (c.553C > A). The isogenic lines displayed characteristic iPSC morphology, expressed pluripotency markers, differentiated into cells of all three germ layers, and possessed normal karyotypes. These lines could be useful models of human ACTA1 disease.

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AN - SCOPUS:85102496573

VL - 53

JO - Stem Cell Research

JF - Stem Cell Research

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ER -

Generation of two isogenic induced pluripotent stem cell lines from a 4-month-old severe nemaline myopathy patient with a heterozygous dominant c.553C > A (p.Arg183Ser) variant in the ACTA1 gene

Abstract

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Gene discovery and pathobiology in muscle diseases

Cite this