Morphology |
Photography Bright field |
Normal |
Figure 1A |
Pluripotency status |
Qualitative analysis: Alkaline phosphatase staining |
Positive |
Figure 1B |
Qualitative analysis: Immunocytochemistry |
Positive staining for pluripotency markers: OCT3/4, SOX2, NANOG, SSEA-4 |
Figure 1C |
Quantitative analysis: RT-qPCR |
Expression of pluripotency markers: NANOG, OCT4, SOX2 |
Figure 1D |
Genotype |
Karyotype (G-banding) |
46,XY |
Figure 1E |
Mutation analysis |
Sanger sequencing of DNA from patient’s PBMCs and iPSCs |
Homozygous p.M694V (c.2080A>G, rs61752717) in exon 10 of the MEFV gene |
Figure 1H |
Differentiation potential |
Embryoid body formation |
Positive staining for germ layer markers: ɑSMA and CD29 (mesoderm); MAP2 and TUBB3/TUJ1 (ectoderm); CK18/AFP (endoderm) |
Figure 1G |
Specific pathogen-free status |
Mycoplasma |
Negative |
Figure 1I |