Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)
Por:
Kuebler, B, Aran, B, Miquel-Serra, L, Munoz, Y, Ars, E, Bullich, G, Furlano, M, Torra, R, Marti, M, Veiga, A, Raya, A
Publicada:
1 dic 2017
Resumen:
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.
Filiaciones:
Kuebler, B:
Ctr Regenerat Med Barcelona CMRB, Barcelona, Spain
CMRB, Natl Stem Cell Bank Barcelona Node, Biomol & Bioinformat Resources Platform PRB2, ISCIII, Barcelona, Spain
Aran, B:
Ctr Regenerat Med Barcelona CMRB, Barcelona, Spain
CMRB, Natl Stem Cell Bank Barcelona Node, Biomol & Bioinformat Resources Platform PRB2, ISCIII, Barcelona, Spain
Miquel-Serra, L:
Ctr Regenerat Med Barcelona CMRB, Barcelona, Spain
Munoz, Y:
Ctr Regenerat Med Barcelona CMRB, Barcelona, Spain
Ars, E:
Univ Autonoma Barcelona, Inst Invest Biomed St Pau, Mol Biol Lab, Inst Invest Carlos 3,REDinREN,Fdn Puigvert, Barcelona, Spain
Bullich, G:
Univ Autonoma Barcelona, Inst Invest Biomed St Pau, Mol Biol Lab, Inst Invest Carlos 3,REDinREN,Fdn Puigvert, Barcelona, Spain
Furlano, M:
Univ Autonoma Barcelona, Inst Invest Carlos 3, Inherited Kidney Disorders,Nephrol Dept, Inst Invest Biomed St Pau,Fdn Puigvert,REDinREN, Barcelona, Spain
Torra, R:
Univ Autonoma Barcelona, Inst Invest Carlos 3, Inherited Kidney Disorders,Nephrol Dept, Inst Invest Biomed St Pau,Fdn Puigvert,REDinREN, Barcelona, Spain
Marti, M:
Ctr Regenerat Med Barcelona CMRB, Barcelona, Spain
Veiga, A:
Ctr Regenerat Med Barcelona CMRB, Barcelona, Spain
CMRB, Natl Stem Cell Bank Barcelona Node, Biomol & Bioinformat Resources Platform PRB2, ISCIII, Barcelona, Spain
Ctr Networked Biomed Res Bioeng Biomat & Nanomed, Madrid, Spain
Raya, A:
Ctr Regenerat Med Barcelona CMRB, Barcelona, Spain
Ctr Networked Biomed Res Bioeng Biomat & Nanomed, Madrid, Spain
ICREA, Barcelona, Spain
Gold
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