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

Table 5 Immortalized human myoblasts

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

Control, Syne-1 mutant [23] and LMNA mutant myoblasts [24, 25], immortalised as described [42]

ISSN: 2661-8850