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Cellosaurus NH50116 (CVCL_UX23)

[Text version]
Cell line name NH50116
Accession CVCL_UX23
Resource Identification Initiative To cite this cell line use: NH50116 (RRID:CVCL_UX23)
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=Heterozygous (NHCDR=NH50116).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_B6HV (NH50336)CVCL_B6HW (NH50337)
Originate from same individual CVCL_UX24 ! NH50117
CVCL_UX25 ! NH50118
Sex of cell Male
Age at sampling 40-49Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50116
Encyclopedic resources Wikidata; Q98127536
Entry history
Entry creation25-Feb-2019
Last entry update19-Dec-2024
Version number11