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Cellosaurus HD-iPShom 4F-3 (CVCL_W314)

[Text version]
Cell line name HD-iPShom 4F-3
Accession CVCL_W314
Resource Identification Initiative To cite this cell line use: HD-iPShom 4F-3 (RRID:CVCL_W314)
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[39-43] (c.52CAG(39-43)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Homozygous (PubMed=22405424).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 44Y
Category Induced pluripotent stem cell
Publications

PubMed=22405424; DOI=10.1016/j.nbd.2011.12.042
Camnasio S., Delli Carri A., Lombardo A., Grad I., Mariotti C., Castucci A., Rozell B., Lo Riso P., Castiglioni V., Zuccato C., Rochon C., Takashima Y., Diaferia G.R., Biunno I., Gellera C., Jaconi Devaud M.E.E., Smith A.G., Hovatta O., Naldini L., Di Donato S., Feki A., Cattaneo E.
The first reported generation of several induced pluripotent stem cell lines from homozygous and heterozygous Huntington's disease patients demonstrates mutation related enhanced lysosomal activity.
Neurobiol. Dis. 46:41-51(2012)

Cross-references
Encyclopedic resources Wikidata; Q54882094
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number10