Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)
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:
Skin biopsies were obtained from two male patients with X-linked Alport syndrome (XLAS) with hemizygous COL4A5 mutations in exon 41 or exon 46. Dermal fibroblastswere extracted and reprogrammed by nucleofection with episomal plasmids carrying OCT3/4, SOX2, KLF4 LIN28, L-MYC and p53 shRNA. The generated induced Pluripotent Stem Cell (iPSC) lines AS-FiPS2-Ep6F-28 and AS-FiPS3-Ep6F-9 were free of genomically integrated reprogramming genes, had the specific mutations, a stable karyotype, expressed pluripotency markers and generated embryoid bodies which were differentiated towards the three germ layers in vitro. These iPSC lines offer a useful resource to study Alport syndrome pathomechanisms and drug testing. (C) 2017 The Authors. Published by Elsevier B.V.
Filiaciones:
Kuebler, B:
CMRB, Barcelona, Spain
CMRB, ISCIII, PRB2, Natl Stem Cell Bank Barcelona Node, Barcelona, Spain
Aran, B:
CMRB, Barcelona, Spain
CMRB, ISCIII, PRB2, Natl Stem Cell Bank Barcelona Node, Barcelona, Spain
Miquel-Serra, L:
CMRB, Barcelona, Spain
Munoz, Y:
CMRB, Barcelona, Spain
Ars, E:
Univ Autonoma Barcelona, Mol Biol Lab, Fundacio Puigvert, IIB St Pau,REDinREN,Inst Invest Carlos 3, Barcelona, Spain
Bullich, G:
Univ Autonoma Barcelona, Mol Biol Lab, Fundacio Puigvert, IIB St Pau,REDinREN,Inst Invest Carlos 3, Barcelona, Spain
Furlano, M:
Univ Autonoma Barcelona, Inherited Kidney Disorders, Nephrol Dept,REDinREN, Fundacio Puigvert,IIB St Pau,Inst Invest Carlos 3, Barcelona, Spain
Torra, R:
Univ Autonoma Barcelona, Inherited Kidney Disorders, Nephrol Dept,REDinREN, Fundacio Puigvert,IIB St Pau,Inst Invest Carlos 3, Barcelona, Spain
Marti, M:
CMRB, Barcelona, Spain
Veiga, A:
CMRB, Barcelona, Spain
CMRB, ISCIII, PRB2, Natl Stem Cell Bank Barcelona Node, Barcelona, Spain
Ctr Networked Biomed Res Bioengn Biomat & Nanomed, Madrid, Spain
Raya, A:
CMRB, Barcelona, Spain
Ctr Networked Biomed Res Bioengn Biomat & Nanomed, Madrid, Spain
ICREA, Barcelona, Spain
Gold
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