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Cellosaurus NH50327 (CVCL_B6HK)

[Text version]
Cell line name NH50327
Accession CVCL_B6HK
Resource Identification Initiative To cite this cell line use: NH50327 (RRID:CVCL_B6HK)
Comments Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Cell type: Erythroblast; CL=CL_0000765.
Sequence variations
  • Mutation; HGNC; HGNC:4601; GRN; Simple_corrected; p.Ala9Asp (c.26C>A); ClinVar=VCV000016013; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50327).
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_A9RN (NH50293)
Sex of cell Female
Age at sampling 50-59Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50327
Encyclopedic resources Wikidata; Q112129422
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number6