TY - JOUR
T1 - Integration-free induced pluripotent stem cells derived from a patient with autosomal recessive Alport syndrome (ARAS)
AU - Kuebler, Bernd
AU - Aran, Begoña
AU - Miquel-Serra, Laia
AU - Muñoz, Yolanda
AU - Ars, Elisabet
AU - Bullich Vilanova, Gemma
AU - Furlano, Monica
AU - Torra Balcells, Roser
AU - Marti, Merce
AU - Veiga, Anna
AU - Raya, Ángel
PY - 2017
Y1 - 2017
N2 - 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.
AB - 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.
UR - https://www.scopus.com/pages/publications/85030114201
U2 - 10.1016/j.scr.2017.08.021
DO - 10.1016/j.scr.2017.08.021
M3 - Article
C2 - 29246570
SN - 1873-5061
VL - 25
SP - 1
EP - 5
JO - Stem Cell Research
JF - Stem Cell Research
ER -