title: Generation of a human induced pluripotent stem cell line via CRISPR-Cas9 mediated integration of a site-specific homozygous mutation in CHMP2B.
abstract: Frontotemporal dementia (FTD) is an early onset neurodegenerative disease. Mutations in several genes cause familial FTD and one of them is charged multivesicular body protein 2B (CHMP2B) on chromosome 3 (FTD3), a component of the endosomal sorting complex required for transport III (ESCRT-III). We have generated an induced pluripotent stem cell (iPSC) line of a healthy individual and inserted the CHMP2B IVS5AS G-C gene mutation into both alleles, resulting in aberrant splicing. This human iPSC line provides an ideal model to study CHMP2B-dependent phenotypes of FTD3.
authors: Stem Cells and Embryology Group, Department of Veterinary Clinical and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark. Electronic address: yu.zhang@sund.ku.dk.
authors: Yu
authors: Y
authors: Zhang
authors: Bioneer A/S, Hørsholm, Denmark.
authors: Benjamin
authors: B
authors: Schmid
authors: Neurogenetics Clinic & Research Lab, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
authors: Troels T
authors: TT
authors: Nielsen
authors: Neurogenetics Clinic & Research Lab, Danish Dementia Research Centre, Department of Neurology, Rigshospitalet, University of Copenhagen, Denmark.
authors: Jørgen E
authors: JE
authors: Nielsen
authors: Bioneer A/S, Hørsholm, Denmark.
authors: Christian
authors: C
authors: Clausen
authors: Stem Cells and Embryology Group, Department of Veterinary Clinical and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark.
authors: Poul
authors: P
authors: Hyttel
authors: Bioneer A/S, Hørsholm, Denmark.
authors: Bjørn
authors: B
authors: Holst
authors: Stem Cells and Embryology Group, Department of Veterinary Clinical and Animal Sciences, Faculty of Health and Medical Sciences, University of Copenhagen, Denmark. Electronic address: kkf@sund.ku.dk.
authors: Kristine K
authors: KK
authors: Freude