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Cellosaurus NH50172 (CVCL_UX09)

[Text version]
Cell line name NH50172
Accession CVCL_UX09
Resource Identification Initiative To cite this cell line use: NH50172 (RRID:CVCL_UX09)
Comments Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroblast; CL=CL_0000765.
Sequence variations
  • Mutation; HGNC; HGNC:6893; MAPT; Simple; p.Asn279Lys (c.837T>G) (N596K, c.1788T>G or N614K, c.1842T>G); ClinVar=VCV000014253; Zygosity=Unspecified (NHCDR=NH50172).
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_UX08 ! NH50171
CVCL_UX10 ! NH50173
Sex of cell Female
Age at sampling 50-59Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50172
Encyclopedic resources Wikidata; Q98127607
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number11