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Cellosaurus NH50337 (CVCL_B6HW)

[Text version]
Cell line name NH50337
Accession CVCL_B6HW
Resource Identification Initiative To cite this cell line use: NH50337 (RRID:CVCL_B6HW)
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_corrected; p.Asn279Lys (c.837T>G) (N596K, c.1788T>G or N614K, c.1842T>G); ClinVar=VCV000014253; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50337).
Disease Frontotemporal dementia (NCIt: C84719)
Behavioral variant of frontotemporal dementia (ORDO: Orphanet_275864)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_UX23 (NH50116)
Sex of cell Male
Age at sampling 40-49Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50337
Encyclopedic resources Wikidata; Q112129432
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6