Fig. 1: Isolation of pure MuSC populations from two patients carrying a homozygous DYSF c.4872_4876delinsCCCC founder mutation. | Nature Communications

Fig. 1: Isolation of pure MuSC populations from two patients carrying a homozygous DYSF c.4872_4876delinsCCCC founder mutation.

From: Gene-editing in patient and humanized-mice primary muscle stem cells rescues dysferlin expression in dysferlin-deficient muscular dystrophy

Fig. 1

a MuSC derived from patient 1 (upper panel) and 2 (lower panel) stained for the myogenic markers DES, PAX7, MYOD, MYF5, and the proliferation marker KI-67. Nuclei are stained with Hoechst. The percentage of cells expressing each marker is shown in the corresponding colors. Scale bars: 50 µm. Several MuSC populations (Patient 1: n = 2; Patient 2: n = 8) were prepared from a single muscle biopsy obtained from each patient. b PCR genotyping of DYSF exon 44 in genomic DNA from a control and the two patients carrying the homozygous c.4872_4876delinsCCCC mutation.

Back to article page