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Cellosaurus NH50375 (CVCL_C0MF)

[Text version]
Cell line name NH50375
Accession CVCL_C0MF
Resource Identification Initiative To cite this cell line use: NH50375 (RRID:CVCL_C0MF)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 4851; HTT; Repeat_expansion_corrected; p.Gln18[44] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous; Note=By CRISPR/Cas9 (NHCDR=NH50375).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y816 (ND38547)
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) NHCDR; NH50375
Encyclopedic resources Wikidata; Q114312507
Entry history
Entry creation23-Jun-2022
Last entry update30-Jan-2024
Version number5