Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)
Summary
A skin biopsy was obtained from a 25-year-old female patient with 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. Copyright © 2017 The Author(s). Published by Elsevier B.V. All rights reserved.
| Authors | Kuebler B, Aran B, Miquel-Serra L, Muñoz Y, Ars E, Bullich G, Furlano M, Torra R, Marti M, Veiga A, Raya A |
|---|---|
| Journal | Stem cell research |
| Publication Date | 2017 Dec;25:1-5 |
| PubMed | 29246570 |
| DOI | 10.1016/j.scr.2017.08.021 |