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. 2017 Jan 31;8(26):42030–42042. doi: 10.18632/oncotarget.14925

Figure 1. SMN gene mutation screening of cell lines from the three individuals.

Figure 1

A. A schematic diagram of the pedigree for iPS cell generation. In addition, iPS cells from a SMA I patient outside of the pedigree were used in the current study. B. Cell lines from the three individuals: iPSCs reprogrammed from fibroblasts (1-2, the SMA I patient), and primary culture of urine cell (3-4, the SMA III patient and healthy control). Scale bar, 100 μm. C. Detection of homozygous deletion of SMN1 gene (exon 7 and exon 8) by PCR-RFLP. D. MLPA results, red arrows- “a” and “c” indicate SMN1 gene (exon 7 and exon 8), black arrows- “b” and “d” indicate SMN2 gene (exon 7 and exon 8).