TY - JOUR
T1 - Generation of integration-free induced pluripotent stem cell lines derived from two patients with X-linked Alport syndrome (XLAS)
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 - 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 fibroblasts were 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.
AB - 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 fibroblasts were 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.
U2 - 10.1016/j.scr.2017.08.019
DO - 10.1016/j.scr.2017.08.019
M3 - Article
C2 - 29150092
SN - 1873-5061
VL - 25
SP - 291
EP - 295
JO - Stem Cell Research
JF - Stem Cell Research
ER -