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

Research output: Contribution to journalJournal articleResearchpeer-review

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

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.
Original languageEnglish
JournalStem Cell Research
Volume16
Issue number3
Pages (from-to)553-556
Number of pages4
ISSN1873-5061
DOIs
Publication statusPublished - May 2016

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