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Cellosaurus HD180i.5 (CVCL_W580)

[Text version]
Cell line name HD180i.5
Accession CVCL_W580
Resource Identification Initiative To cite this cell line use: HD180i.5 (RRID:CVCL_W580)
Comments Population: Caucasian.
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; p.Gln18[179] (c.52CAG(179)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (from parent cell line).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_W576 (GM09197)
Sex of cell Male
Age at sampling 6Y
Category Induced pluripotent stem cell
Publications

PubMed=22748968; DOI=10.1016/j.stem.2012.04.027; PMCID=PMC3804072
HD iPSC Consortium
Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes.
Cell Stem Cell 11:264-278(2012)

Cross-references
Cell line databases/resources SKIP; SKIP000317
Encyclopedic resources Wikidata; Q54882103
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number11