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Region Hovedstaden - en del af Københavns Universitetshospital
Udgivet

Generation of spinocerebellar ataxia type 3 patient-derived induced pluripotent stem cell line SCA3.B11

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Identification of evolutionarily conserved gene networks mediating neurodegenerative dementia

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Clinical and genetic characteristics of late-onset Huntington's disease

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Development, behaviour and autism in individuals with SMC1A variants

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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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.

OriginalsprogEngelsk
TidsskriftStem Cell Research
Vol/bind16
Udgave nummer3
Sider (fra-til)589-92
Antal sider4
ISSN1873-5061
DOI
StatusUdgivet - maj 2016

ID: 48958318