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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)
Amyotrophic lateral sclerosis (ORDO: Orphanet_803)
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
Higelin J., Demestre M., Putz S., Delling J.P., Jacob C., Lutz A.-K., Bausinger J., Huber A.-K., Klingenstein M., Barbi G., Speit G., Huebers A., Weishaupt J.H., Hermann A., Liebau S., Ludolph A.C., Boeckers T.M.
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 update19-Dec-2024
Version number12