Table I Characteristics of primary DEB cells used in this study. n.d.: not detected
IDAge at biopsy/genderCOL7A1 mutationC7 levels (IF analysis)References (report of patients)
DEB 18 years/mc.1934delCn.d.(15)
c.1934delC
DEB 21 month/fc.425A>Gn.d.(15)
c.682 + 1G>A
DEB 31 month/mc.425A>Gn.d.(14)
c.5261dupC
DEB 46 years/fc.425A>Gn.d.Patient not reported before
c.682 + 1G>A
DEB 51 month/fc.4119 + 1G>Cn.d.Patient not reported before
c.8523_8536del
DEB 63 years/fc.682 + 1G>An.d.Patient not reported before
c.5261dupC
DEB 71 month/fc.425A>Gn.d.(15)
c.425A>G
DEB 830 years/mc.426 + 1G>An.d.(15)
c.1474del11
DEB 953 years/mc.425A>Gn.d.Patient not reported before
c.425A>G
DEB 1047 years/mc.425A>Gn.d.Patient not reported before
c.425A>G