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Cellosaurus NH50329 (CVCL_B6HM)

[Text version]
Cell line name NH50329
Accession CVCL_B6HM
Resource Identification Initiative To cite this cell line use: NH50329 (RRID:CVCL_B6HM)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:4851; HTT; Repeat_expansion_corrected; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50329).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W577 (ND36999)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50329
Encyclopedic resources Wikidata; Q112129424
Entry history
Entry creation17-Mar-2022
Last entry update19-Dec-2024
Version number7