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Cellosaurus 19L4 (CVCL_RX91)

[Text version]
Cell line name 19L4
Accession CVCL_RX91
Resource Identification Initiative To cite this cell line use: 19L4 (RRID:CVCL_RX91)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Ala469Thr (c.1405G>A) (p.Ala152Thr, c.454G>A); ClinVar=VCV000323645; Zygosity=Unspecified (PubMed=27594586).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_RX90 ! 19L3
Sex of cell Male
Age at sampling 68Y
Category Induced pluripotent stem cell
Publications

PubMed=27594586; DOI=10.1016/j.stemcr.2016.08.006; PMCID=PMC5032669
Biswas M.H.U., Almeida S., Lopez-Gonzalez R., Mao W.-J., Zhang Z.-J., Karydas A.M., Geschwind M.D., Biernat J., Mandelkow E.-M., Futai K., Miller B.L., Gao F.-B.
MMP-9 and MMP-2 contribute to neuronal cell death in iPSC models of frontotemporal dementia with MAPT mutations.
Stem Cell Reports 7:316-324(2016)

Cross-references
Cell line databases/resources SKIP; SKIP001355
Encyclopedic resources Wikidata; Q54582639
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9