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Cellosaurus FUS2 corrected (CVCL_VF87)

[Text version]
Cell line name FUS2 corrected
Synonyms ISOGENIC CNTL; R495QfsX527c.1483insC
Accession CVCL_VF87
Resource Identification Initiative To cite this cell line use: FUS2 corrected (RRID:CVCL_VF87)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4010; FUS; Simple_corrected; p.Arg495Glufs*34 (c.1483delC); Zygosity=Heterozygous; Note=By CRISPR/Cas9 (PubMed=28082870).
Disease Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia (NCIt: C168750)
Frontotemporal dementia with motor neuron disease (ORDO: Orphanet_275872)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_VF86 (FUS2)
Sex of cell Male
Age at sampling 28Y
Category Induced pluripotent stem cell
Publications

PubMed=28082870; DOI=10.3389/fncel.2016.00290; PMCID=PMC5183648
Julia Higelin, Maria Demestre, Stefan Putz, Jan P. Delling, Christian Jacob, Anne-Kathrin Lutz, Julia Bausinger, Anne-Kathrin Huber, Moritz Klingenstein, Gotthold Barbi, Gunter Speit ...Show all 17 authors... , Annemarie Huebers, Jochen H. Weishaupt, Andreas Hermann, Stefan Liebau, Albert Christian Ludolph, Tobias M. Boeckers; Show fewer authors
FUS mislocalization and vulnerability to DNA damage in ALS patients derived hiPSCs and aging motoneurons.
Front. Cell. Neurosci. 10:290.1-290.21(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001734
Encyclopedic resources Wikidata; Q54835273
Entry history
Entry creation14-May-2018
Last entry update10-Apr-2025
Version number13