Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)

A skin biopsywas obtained froma 25-year-old female patientwith autosomal recessive Alport syndrome (ARAS) with the homozygous COL4A3 mutation c. 345delG, p.(P166Lfs* 37). Dermal fibroblasts were derived and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53shRNA. The generated induced Pluripotent Stem Cell (iPSC) clone AS FiPS1 Ep6F-2 was free of genomically integrated reprogramming genes, had the specific homozygous mutation, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro. This iPSC line offers a useful resource to study Alport syndrome pathomechanisms and drug testing. (c) 2017 The Author(s). Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license.