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 | Â | |||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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 | ||||||||