Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant

Joshua S. Clayton; Christina Vo; Jordan Crane; Carolin K. Scriba; Safaa Saker; Thierry Larmonier; Edoardo Malfatti; Norma B. Romero; Gianina Ravenscroft; Nigel G. Laing; Rhonda L. Taylor

doi:10.1016/j.scr.2024.103491

Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant

Joshua S. Clayton, Christina Vo, Jordan Crane, Carolin K. Scriba, Safaa Saker, Thierry Larmonier, Edoardo Malfatti, Norma B. Romero, Gianina Ravenscroft, Nigel G. Laing, Rhonda L. Taylor

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

Abstract

Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs. Here, we generated iPSC lines from lymphoblastoid cells of three unrelated individuals heterozygous for the most common MPD1-causing variant; p.Lys1617del. iPSC lines showed typical morphology, expressed pluripotency markers, demonstrated trilineage differentiation potential, and had a normal karyotype. These lines represent the first iPSCs derived from MPD1 patients and complement existing MPD1 animal models. They can provide in vitro platforms to better understand and model MPD1 pathomechanisms and test therapies.

Original language	English
Article number	103491
Number of pages	6
Journal	Stem Cell Research
Volume	80
Early online date	23 Jul 2024
DOIs	https://doi.org/10.1016/j.scr.2024.103491
Publication status	E-pub ahead of print - 23 Jul 2024

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Clayton, J. S., Vo, C., Crane, J., Scriba, C. K., Saker, S., Larmonier, T., Malfatti, E., Romero, N. B., Ravenscroft, G., Laing, N. G., & Taylor, R. L. (2024). Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant. Stem Cell Research, 80, Article 103491. Advance online publication. https://doi.org/10.1016/j.scr.2024.103491

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title = "Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant",

abstract = "Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs. Here, we generated iPSC lines from lymphoblastoid cells of three unrelated individuals heterozygous for the most common MPD1-causing variant; p.Lys1617del. iPSC lines showed typical morphology, expressed pluripotency markers, demonstrated trilineage differentiation potential, and had a normal karyotype. These lines represent the first iPSCs derived from MPD1 patients and complement existing MPD1 animal models. They can provide in vitro platforms to better understand and model MPD1 pathomechanisms and test therapies.",

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

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AU - Clayton, Joshua S.

AU - Vo, Christina

AU - Crane, Jordan

AU - Scriba, Carolin K.

AU - Saker, Safaa

AU - Larmonier, Thierry

AU - Malfatti, Edoardo

AU - Romero, Norma B.

AU - Ravenscroft, Gianina

AU - Laing, Nigel G.

AU - Taylor, Rhonda L.

PY - 2024/7/23

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AB - Variants in MYH7 cause cardiomyopathies as well as myosin storage myopathy and Laing early-onset distal myopathy (MPD1). MPD1 is characterized by muscle weakness and atrophy usually beginning in the lower legs. Here, we generated iPSC lines from lymphoblastoid cells of three unrelated individuals heterozygous for the most common MPD1-causing variant; p.Lys1617del. iPSC lines showed typical morphology, expressed pluripotency markers, demonstrated trilineage differentiation potential, and had a normal karyotype. These lines represent the first iPSCs derived from MPD1 patients and complement existing MPD1 animal models. They can provide in vitro platforms to better understand and model MPD1 pathomechanisms and test therapies.

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Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant

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