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Cellosaurus ND38547 (CVCL_Y816)

[Text version]
Cell line name ND38547
Synonyms ND38547*H
Accession CVCL_Y816
Resource Identification Initiative To cite this cell line use: ND38547 (RRID:CVCL_Y816)
Comments 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; p.Gln18[44] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (NHCDR=ND38547).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y854 (GM04777)
Children:
CVCL_C0MF (NH50375)
Sex of cell Male
Age at sampling 53Y
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; ND38547 - Discontinued
NHCDR; ND38547
Cell line databases/resources SKIP; SKIP001376
SKIP; SKIP004705
Encyclopedic resources Wikidata; Q54930069
Entry history
Entry creation10-Apr-2015
Last entry update19-Dec-2024
Version number16