Figure 1.

Characterization of LGMD2A iPSCs and Respective Muscle Derivatives

(A) List of LGMD2A patient-specific fibroblast samples and their respective CAPN3 mutations. (B) Southern blot for detection of genomic DNA deletion in 9015 LGMD2A iPSCs. This individual’s parent fibroblasts (donors 1 and 2) and control unaffected iPSCs were used as reference. Upper panel shows scheme of the genomic DNA region analyzed and the location of the probe (intron 16). (C) Representative images show staining for MHC (in red) in LGMD2A iPSC-derived myotubes. DAPI stains nuclei (blue). Scale bars: 100 μm. (D) Western blot for CAPN3 in myotubes from patient-specific LGMD2A and control iPSCs. DES (Desmin) and ACTB were used as the differentiation and loading controls, respectively.