Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266

Research output: Contribution to journalJournal articleResearchpeer-review

Documents

  • Adele Gabriele Marthaler
  • Benjamin Schmid
  • Alisa Tubsuwan
  • Ulla B. Poulsen
  • Poul Hyttel
  • Troels Tolstrup Nielsen
  • Nielsen, Jørgen Erik
  • Bjørn Holst

Spinocerebellar ataxia type 2 (SCA2) is a neurodegenerative disease primarily affecting the cerebellum. Very little is known about the molecular mechanisms underlying the disease and, to date, no cure or treatment is available. Here, we demonstrate the generation of an induced pluripotent stem cell (iPSC) line of a SCA2 patient. The selected clone has been proven to be a bona fide iPSC line, which retains a normal karyotype. Due to its differentiation potential into neurons, this iPSC line will be a valuable tool in studying a disease-specific phenotype of SCA2.

Original languageEnglish
JournalStem Cell Research
Volume16
Issue number1
Pages (from-to)166-169
Number of pages4
ISSN1873-5061
DOIs
Publication statusPublished - Jan 2016

    Research areas

  • Alleles, Ataxin-2, Base Sequence, Cell Differentiation, Cell Line, Cellular Reprogramming, Humans, Induced Pluripotent Stem Cells, Karyotype, Male, Molecular Sequence Data, Plasmids, Sequence Analysis, DNA, Spinocerebellar Ataxias, Transcription Factors, Transfection, Journal Article, Research Support, Non-U.S. Gov't

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