Cellular and Molecular Biomarkers Indicate Premature Aging in Pseudoxanthoma Elasticum Patients

Tiemann Janina, Wagner Thomas, Vanakker Olivier M, Gils Matthias van, Cabrera José-Luis Bueno, Ibold Bettina, Faust Isabel, Knabbe Cornelius, Hendig Doris

Table 1 Characterization of human dermal fibroblasts from PXE patients and healthy controls.

Sample ID Gender Age1 Biopsy source ABCC6 genotype2 Genotype status PXE patients P3M a male 57 Neck c.3421C>T (p.R1141X) c.3883-6G>A (SSM) cht P128M a male 51 Neck c.3769_3770insC (p.L1259fsX1277) c.3769_3770insC (p.L1259fsX1277) hm P255F a female 48 Arm c.3421C>T (p.R1141X) c.2787+1G>T (SSM) cht Healthy controls M57A b (AG13145) male 57 Arm - - wt M52A b (AG11482) male 52 Arm - - wt F48A b (AG14284) female 48 Arm - - wt