Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.A11

Susanne Kofoed Hansen, Helena Borland, Lis Frydenreich Hasholt, Zeynep Tümer, Jørgen Erik Nielsen, Mikkel A. Rasmussen, Troels Tolstrup Nielsen, Tina C. Stummann, Karina Fog, Poul Hyttel

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Abstract

Spinocerebellar ataxia type 3 (SCA3) is a dominantly inherited neurodegenerative disease caused by a CAG-repeat expanding mutation in ATXN3. We generated induced pluripotent stem cells (iPSCs) from a SCA3 patient by electroporation of dermal fibroblasts 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 genomically integrated episomal plasmids, expressed pluripotency markers, could differentiate into the three germ layers in vitro and retained the disease-causing ATXN3 mutation. This iPSC line could be useful for the investigation of SCA3 disease mechanisms.
OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind16
Udgave nummer3
Sider (fra-til)553-556
Antal sider4
ISSN1873-5061
DOI
StatusUdgivet - maj 2016

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