Table I. Characteristics of primary DEB cells used in this study. n.d.: not detected.
ID | Age at biopsy/gender | COL7A1 mutation | C7 levels (IF analysis) | References (report of patients) |
---|---|---|---|---|
DEB 1 | 8 years/m | c.1934delC | n.d. | (15) |
c.1934delC | ||||
DEB 2 | 1 month/f | c.425A>G | n.d. | (15) |
c.682 + 1G>A | ||||
DEB 3 | 1 month/m | c.425A>G | n.d. | (14) |
c.5261dupC | ||||
DEB 4 | 6 years/f | c.425A>G | n.d. | Patient not reported before |
c.682 + 1G>A | ||||
DEB 5 | 1 month/f | c.4119 + 1G>C | n.d. | Patient not reported before |
c.8523_8536del | ||||
DEB 6 | 3 years/f | c.682 + 1G>A | n.d. | Patient not reported before |
c.5261dupC | ||||
DEB 7 | 1 month/f | c.425A>G | n.d. | (15) |
c.425A>G | ||||
DEB 8 | 30 years/m | c.426 + 1G>A | n.d. | (15) |
c.1474del11 | ||||
DEB 9 | 53 years/m | c.425A>G | n.d. | Patient not reported before |
c.425A>G | ||||
DEB 10 | 47 years/m | c.425A>G | n.d. | Patient not reported before |
c.425A>G |