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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.
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. Suleski IS, et al. Among authors: saker s. Stem Cell Res. 2022 Aug;63:102830. doi: 10.1016/j.scr.2022.102830. Epub 2022 Jun 6. Stem Cell Res. 2022. PMID: 35728440 Free article.
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 JS, Scriba CK, Romero NB, Malfatti E, Saker S, Larmonier T, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: saker s. Stem Cell Res. 2021 May;53:102273. doi: 10.1016/j.scr.2021.102273. Epub 2021 Feb 26. Stem Cell Res. 2021. PMID: 33740643 Free article.
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 JS, Scriba CK, Romero NB, Malfatti E, Saker S, Larmonier T, Nowak KJ, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: saker s. Stem Cell Res. 2021 Aug;55:102482. doi: 10.1016/j.scr.2021.102482. Epub 2021 Jul 29. Stem Cell Res. 2021. PMID: 34388489 Free article.
The Amyotrophic Lateral Sclerosis M114T PFN1 Mutation Deregulates Alternative Autophagy Pathways and Mitochondrial Homeostasis.
Teyssou E, Chartier L, Roussel D, Perera ND, Nemazanyy I, Langui D, Albert M, Larmonier T, Saker S, Salachas F, Pradat PF, Meininger V, Ravassard P, Côté F, Lobsiger CS, Boillée S, Turner BJ, Seilhean D, Millecamps S. Teyssou E, et al. Among authors: saker s. Int J Mol Sci. 2022 May 19;23(10):5694. doi: 10.3390/ijms23105694. Int J Mol Sci. 2022. PMID: 35628504 Free PMC article.
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.
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. Clayton JS, et al. Among authors: saker s. Stem Cell Res. 2022 Aug;63:102829. doi: 10.1016/j.scr.2022.102829. Epub 2022 Jun 6. Stem Cell Res. 2022. PMID: 35728439 Free article.
Generation of two induced pluripotent stem cell lines from a 33-year-old central core disease patient with a heterozygous dominant c.14145_14156delCTACTGGGACA (p.Asn4715_Asp4718del) deletion in the RYR1 gene.
Driver K, Vo C, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL, Clayton JS. Driver K, et al. Among authors: saker s. Stem Cell Res. 2023 Dec;73:103258. doi: 10.1016/j.scr.2023.103258. Epub 2023 Nov 22. Stem Cell Res. 2023. PMID: 38029555 Free article.
Generation of two iPSC lines from patients with inherited central core disease and concurrent malignant hyperthermia caused by dominant missense variants in the RYR1 gene.
Clayton JS, Vo C, Crane J, Scriba CK, Saker S, Larmonier T, Malfatti E, Romero NB, Ravenscroft G, Laing NG, Taylor RL. Clayton JS, et al. Among authors: saker s. Stem Cell Res. 2024 Jun;77:103410. doi: 10.1016/j.scr.2024.103410. Epub 2024 Mar 30. Stem Cell Res. 2024. PMID: 38583293 Free article.
77 results