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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. upd(20)mat is a rare cause of the Silver-Russell-syndrome-like phenotype: Two unrelated cases and screening of large cohorts

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Delineation of phenotypes and genotypes related to cohesin structural protein RAD21

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Enhancement of Autophagy and Solubilization of Ataxin-2 Alleviate Apoptosis in Spinocerebellar Ataxia Type 2 Patient Cells

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Chromothripsis and DNA Repair Disorders

    Publikation: Bidrag til tidsskriftReviewForskningpeer review

Vis graf over relationer

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