Table 1.
General information of RDEB patients and healthy donors participating in this study
| Sample Name | Age | Sex | RDEB subtype | Sample type | Sample code | Body location | Mutations | ||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| SA01F | 37 | F | - | Skin biopsy | NHF | Abdomen | - | ||||||||
| SA02F | 38 | F | - | Skin biopsy | NHF | Abdomen | - | ||||||||
| SA03F | 39 | F | - | Skin biopsy | NHF | Abdomen | - | ||||||||
| SA04F | 49 | F | - | Skin biopsy | NHF | Abdomen | - | ||||||||
| SA05F | 49 | F | - | Skin biopsy | NHF | Abdomen | - | ||||||||
| Br1 | N/A | F | - | Skin biopsy | NHF | Breast | - | ||||||||
| Br2 | N/A | F | - | Skin biopsy | NHF | Breast | - | ||||||||
| RDEB1-01 month 3 | 3 | F | Gen. Int. | Wound | RDEB-CW | Right heel | c.6527insC/ c.6527insC | ||||||||
| RDEB1-02 month 3 | Left ankle | ||||||||||||||
| RDEB1-20 month 3 | RDEB-AW | Right elbow | |||||||||||||
| pEB56F | 19 | M | Gen. Int. | Skin biopsy | RDEB | Right arm | c.6527insC /c.-185 C > T | ||||||||
| pEB111F | 11 | F | Gen. Int. | Skin biopsy | RDEB | Left arm |
c.6527insC/ c.8329 C > T |
||||||||
| pEB210F | 18 | F | Gen. Severe | Skin biopsy | RDEB | Ankle | c.7708delG/ c.7708delG | ||||||||
| RDEB4-03 month 0 | 20 | M | Gen. Severe | Wound | RDEB-AW | Right leg | c.6527insC/ c.6527insC | ||||||||
| RDEB4-04 month 0 | Right ankle | ||||||||||||||
|
RDEB6-01 month 3 RDEB6-02 month 3 RDEB6-01 month 6 |
23 | F | Gen. Severe | Wound | RDEB-CW |
Left arm Left flank Left arm |
c.6527insC/ c.6527insC | ||||||||
| pEB69F | 25 | Skin biopsy | RDEB | Ankle | |||||||||||
| RDEB8-01 month 0 | 24 | F | Gen. Severe | Wound | RDEB-CW | Lumbar region | c.6527insC/ c.7708delG | ||||||||