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

Abstract：

: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.

journal_name

Stem Cell Res

journal_title

Stem cell research

authors

Kuebler B,Aran B,Miquel-Serra L,Muñoz Y,Ars E,Bullich G,Furlano M,Torra R,Marti M,Veiga A,Raya A

doi

10.1016/j.scr.2017.08.021

subject

Has Abstract

pub_date

2017-12-01 00:00:00

pages

1-5

eissn

1873-5061

issn

1876-7753

pii

S1873-5061(17)30183-6

journal_volume

25

pub_type

杂志文章

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