Induced Pluripotent Stem Cells Derived from a CLN5 Patient Manifest Phenotypic Characteristics of Neuronal Ceroid Lipofuscinoses

Kristiina Uusi-Rauva, Tea Blom, Carina von Schantz-Fant, Tomas Blom, Anu Jalanko, Aija Kyttala

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number955
JournalInternational Journal of Molecular Sciences
Volume18
Issue number5
Number of pages14
ISSN1422-0067
DOIs
Publication statusPublished - May 2017
MoE publication typeA1 Journal article-refereed

Fields of Science

  • CLN5
  • iPS cells
  • NCL
  • sphingolipid
  • lysosomal storage disease
  • JANSKY-BIELSCHOWSKY DISEASE
  • HUMAN NEUROBLASTOMA-CELLS
  • LATE INFANTILE NCL
  • BATTEN-DISEASE
  • CHOLESTEROL-METABOLISM
  • ATP SYNTHASE
  • PROTEIN
  • VARIANT
  • ACTIVATION
  • MUTATIONS
  • 3111 Biomedicine

Cite this