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

Bernd Kuebler, Begoña Aran, Laia Miquel-Serra, Yolanda Muñoz, Elisabet Ars, Gemma Bullich, Monica Furlano, Roser Torra, Merce Marti, Anna Veiga, Angel Raya

    Research output: Contribution to journalArticleResearchpeer-review

    2 Citations (Scopus)

    Abstract

    © 2017 The Author(s) 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.
    Original languageEnglish
    Pages (from-to)1-5
    JournalStem Cell Research
    Volume25
    DOIs
    Publication statusPublished - 1 Dec 2017

    Fingerprint Dive into the research topics of 'Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)'. Together they form a unique fingerprint.

    Cite this