Stem cell research · 2017
Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS).
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Kuebler Bernd, Aran Begoña, Miquel-Serra Laia, Muñoz Yolanda, Ars Elisabet, Bullich Gemma, Furlano Monica, Torra Roser, Marti Merce, Veiga Anna, Raya Angel
Аннотация
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.
Предметные рубрики MeSH
AdultCells, CulturedCellular ReprogrammingExonsFemaleFibroblastsHumansIn Vitro TechniquesInduced Pluripotent Stem CellsKruppel-Like Factor 4Kruppel-Like Transcription FactorsMutationNephritis, HereditaryOctamer Transcription Factor-3Organic Cation Transport ProteinsPlasmidsProto-Oncogene Proteins c-mycRNA-Binding ProteinsSOXB1 Transcription FactorsTumor Suppressor Protein p53Organic Cation Transporter 3