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Cellosaurus HD33n (CVCL_W588)

[Text version]
Cell line name HD33n
Accession CVCL_W588
Resource Identification Initiative To cite this cell line use: HD33n (RRID:CVCL_W588)
Comments Population: Caucasian.
Donor information: At sampling donor was not affected with Huntington disease but at significant risk for disease.
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[33] (c.52CAG(33)) (c.52CAG[(27_35)]); ClinVar=VCV000031915; 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_W557 (GM02183)
Sex of cell Female
Age at sampling 21Y
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
Encyclopedic resources Wikidata; Q54882118
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number12