Table 1.
Characterization and validation of the new lines.
| Classification | Test | Result | Data |
|---|---|---|---|
| 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, TRA-1-60, SSEA-4 | Figure 1E | |
| Quantitative analysis: RT-qPCR | Expression of pluripotency markers: NANOG, OCT4, SOX2 | Figure 1C | |
| Genotype | Karyotype (G-banding) | 46,XX | Figure 1D |
| Mutation analysis | Sanger sequencing of DNA from patient’s PBMCs and iPSCs | Heterozygous p.N370S in GBA1 | Figure 1G |
| Differentiation potential | Embryoid body formation | Positive staining for germ layer markers: ɑSMA and NKX2.5 (mesoderm); MAP2 and TUBB3/TUJ1 (ectoderm); FOXA2/AFP (endoderm) | Figure 1F |
| Specific pathogen-free status | Mycoplasma | Negative | Supplementary Figure S1 |