Table 1.
Characteristics of Subjects
| Subject (Age [Sex]) | Diagnosis | Mutation | Source(s) of Samples |
| 9001 (31 years [M]) | Normal | … | Fibroblasts |
| UF130 (21 years [M]) | Normal | … | Fibroblasts |
| 4184 (3 years [M]) | Normal | … | Fibroblasts |
| 4212 (7 mo [M]) | Normal | … | Fibroblasts |
| 9006 (2 mo [M]) | Normal | … | Aortic SMCs |
| UF125 (49 years [F]) | SVAS | 1829G→A | Fibroblasts |
| 175902 (3 years [M]) | SVAS | 1195delG | Fibroblasts |
| 2250 (3 years [M]) | SVAS | 1238delG | Fibroblasts, aortic SMCs |
| 11719 (3 years [F]) | SVAS | t (6;7) | Fibroblasts |
| 207092 (6 years [M]) | WBS | WSCR deletiona | Fibroblasts |
| 6367 (2 years [M]) | WBS | WSCR deletiona | Fibroblasts |
| 14073 (6 years [M]) | WBS | WSCR deletiona | Fibroblasts |
| 14966 (3 mo [M]) | WBS | WSCR deletiona | Fibroblasts |
| 1001 (teenage [F]) | WBS | WSCR deletiona | Aortic SMCs |
a
Determined on the basis of FISH analysis.