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

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.2021.102482

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

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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2 Citations (Scopus)

Abstract

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.

Original language	English
Article number	102482
Journal	Stem Cell Research
Volume	55
DOIs	https://doi.org/10.1016/j.scr.2021.102482
Publication status	Published - Aug 2021

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Improving outcomes for individuals and families affected by genetic disease
Laing, N. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/17 → 31/12/21
Project: Research
Gene discovery and pathobiology in muscle diseases
Ravenscroft, G. (Investigator 01)
NHMRC National Health and Medical Research Council
1/01/17 → 31/07/22
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 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene. Stem Cell Research, 55, Article 102482. https://doi.org/10.1016/j.scr.2021.102482

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title = "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",

abstract = "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.",

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 = aug,

doi = "10.1016/j.scr.2021.102482",

language = "English",

volume = "55",

journal = "Stem Cell Research",

issn = "1873-5061",

publisher = "Pergamon",

}

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 10-year-old typical nemaline myopathy patient with a heterozygous dominant c.541G>A (p.Asp179Asn) pathogenic variant in the ACTA1 gene', Stem Cell Research, vol. 55, 102482. https://doi.org/10.1016/j.scr.2021.102482

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. / Clayton, Joshua S.; Scriba, Carolin K.; Romero, Norma B. et al.
In: Stem Cell Research, Vol. 55, 102482, 08.2021.

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

TY - JOUR

T1 - 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

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 - 2021/8

Y1 - 2021/8

N2 - 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.

AB - 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.

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U2 - 10.1016/j.scr.2021.102482

DO - 10.1016/j.scr.2021.102482

M3 - Article

C2 - 34388489

AN - SCOPUS:85113267135

SN - 1873-5061

VL - 55

JO - Stem Cell Research

JF - Stem Cell Research

M1 - 102482

ER -

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

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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