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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.A11

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Paroxysmal Cranial Dyskinesia and Nail-Patella Syndrome Caused by a Novel Variant in the LMX1B Gene

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Expansion of the phenotypic spectrum of de novo missense variants in kinesin family member 1A (KIF1A)

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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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)553-6
Antal sider4
ISSN1873-5061
DOI
StatusUdgivet - maj 2016

ID: 48958345