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Table 5 Immortalized human myoblasts

From: Specific localization of nesprin-1-α2, the short isoform of nesprin-1 with a KASH domain, in developing, fetal and regenerating muscle, using a new monoclonal antibody

Name Donor Donor Muscle
C5d Newborn (5.5 day), female Quadriceps
C25yr 25 years, male Semitendinosus
C41yr 41 years, male Pectoralis Major
C53yr 53 years, male Quadriceps
C79yr 79 years, female Quadriceps
Syne-1 E7854X 16 years. SYNE1 c.23560 G > T, p.Glu7854* Homozygous Paravertebral
LMNA L380S 12 years, male. LMNA c.1139T > C, p.Leu380Ser Heterozygous Paravertebral
LMNA del.K32 5 years, female. LMNA c.94_69delAAG, p.Lys32del Heterozygous Gastrocnemius
LMNA R249W 3 years, male. LMNA c.745C > T, p.Arg249Trp Heterozygous Deltoid
  1. Control, Syne-1 mutant [23] and LMNA mutant myoblasts [24, 25], immortalised as described [42]