Generation of iPSC lines from three Laing distal myopathy patients with a recurrent MYH7 p.Lys1617del variant.
Joshua S ClaytonChristina VoJordan CraneCarolin K ScribaSafaa SakerThierry LarmonierEdoardo MalfattiNorma B RomeroGianina RavenscroftNigel G LaingRhonda L TaylorPublished in: Stem cell research (2024)
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.
Keyphrases
- early onset
- late onset
- induced pluripotent stem cells
- end stage renal disease
- induced apoptosis
- newly diagnosed
- hypertrophic cardiomyopathy
- ejection fraction
- minimally invasive
- prognostic factors
- cell cycle arrest
- copy number
- gene expression
- climate change
- oxidative stress
- patient reported outcomes
- dna methylation
- binding protein
- risk assessment
- signaling pathway
- myasthenia gravis
- patient reported
- duchenne muscular dystrophy