TY - JOUR
T1 - Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11
AU - Hansen, Susanne Kofoed
AU - Borland, Helena
AU - Hasholt, Lis Frydenreich
AU - Tümer, Zeynep
AU - Nielsen, Jørgen Erik
AU - Rasmussen, Mikkel A.
AU - Nielsen, Troels Tolstrup
AU - Stummann, Tina C.
AU - Fog, Karina
AU - Hyttel, Poul
PY - 2016/5
Y1 - 2016/5
N2 - Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by an expansion of the CAG-repeat in ATXN3. In this study, induced pluripotent stem cells (iPSCs) were generated from SCA3 patient dermal fibroblasts by electroporation with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. Potentially, this iPSC line could be a useful tool for the investigation of SCA3 disease mechanisms.
AB - Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by an expansion of the CAG-repeat in ATXN3. In this study, induced pluripotent stem cells (iPSCs) were generated from SCA3 patient dermal fibroblasts by electroporation with episomal plasmids encoding L-MYC, LIN28, SOX2, KLF4, OCT4 and short hairpin RNA targeting P53. The resulting iPSCs had normal karyotype, were free of integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. Potentially, this iPSC line could be a useful tool for the investigation of SCA3 disease mechanisms.
U2 - 10.1016/j.scr.2016.02.042
DO - 10.1016/j.scr.2016.02.042
M3 - Journal article
C2 - 27346191
VL - 16
SP - 589
EP - 592
JO - Stem Cell Research
JF - Stem Cell Research
SN - 1873-5061
IS - 3
ER -