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Cellosaurus NH50114 (CVCL_UX22)

[Text version]
Cell line name NH50114
Accession CVCL_UX22
Resource Identification Initiative To cite this cell line use: NH50114 (RRID:CVCL_UX22)
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.Val337Met (c.1009G>A) (V654M, c.1960G>A or V672M, c.2014G>A); ClinVar=VCV000014252; Zygosity=Unspecified (NHCDR=NH50114).
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_UX20 ! NH50112
CVCL_UX21 ! NH50113
Sex of cell Female
Age at sampling 60-69Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50114
Encyclopedic resources Wikidata; Q98127534
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number11