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Cellosaurus HD-iPShom 3F-2 (CVCL_W311)

[Text version]
Cell line name HD-iPShom 3F-2
Accession CVCL_W311
Resource Identification Initiative To cite this cell line use: HD-iPShom 3F-2 (RRID:CVCL_W311)
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[42-44] (c.52CAG(42-44)) (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)
Originate from same individual CVCL_W310 ! HD-iPShom 3F-1
CVCL_W312 ! HD-iPShom 4F-1
CVCL_W313 ! HD-iPShom 4F-2
Sex of cell Male
Age at sampling 59Y
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; Q54882091
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number10