Table 1.

Description of cell lines used including disease, LMNA mutation and clinical phenotype

Cell line	Disease	Mutation in LMNA	Clinical phenotype
AG04110	Atypical Werner syndrome	Exon 11, heterozygous c.1733 A>T (p.E578V)	Short stature, dysmorphic features, large coarse brown freckles over the entire body, thin skin on hands and feet, poor dentition, scoliosis, atrophic skin changes, beak nose, and high-pitched voice
NORWAY1010	Atypical Werner syndrome	Exon 5, heterozygous c.834 T>G (p.L140R)	Died at age 36 y, cataracts, premature atherosclerosis, gray/thin hair, scleroderma-like skin, osteoporosis, soft tissue calcification, hypogonadism, aortic stenosis/insufficiency
GM23780	Emery-Dreifuss muscular dystrophy	Exon 1, heterozygous c.104 T>C (p.L35P)	Achieved most motor function milestones and then lost them, sample collected at age 14 y, clinically affected, diagnostic muscle biopsy
PSADFN414	Atypical HGPS	Exon 11, heterozygous c.1762T>C (p.C588R)	Small stature, mandibular hypoplasia, dental overcrowding, slow-growing coarse scalp hair, high narrow palate, thin and atrophic skin, little s.c. fat, joint pain, osteoarthritis, osteolysis, mild tricuspid valve regurgitation, sinus arrhythmia
PSADFN425	Atypical HGPS	Exon 1, heterozygous c.331 G>A (p.E111K)	Small stature, mandibular hypoplasia, reduced s.c. fat and muscle mass, thinned hair, decreased bone density, dental overcrowding, stiff joints, elevated blood pressure, tricuspid valve regurgitation, systolic murmur, aortic stenosis at 20.5 y
HGADFN167	Classical HGPS	Exon 11, heterozygous c.1824 C>T (p.G608G)	Classical HGPS phenotype with low body weight, short stature, muscle contractures, hearing loss, osteoporosis, dysplastic skeletal changes, dental crowding, narrow tented palate, s.c. paucity of fat, insulin resistance, scleroderma-like areas, skin fragility, paucity of scalp hair, and progressive cardiovascular disease; death at 17.2 y due to cardiac arrest
HGFDFN168	Normal control	None (exon 11 sequenced)	None (father of HGADFN167, normal control)