Cellosaurus logo
expasy logo

Cellosaurus HD-iPShet 3F-1 (CVCL_W315)

[Text version]
Cell line name HD-iPShet 3F-1
Accession CVCL_W315
Resource Identification Initiative To cite this cell line use: HD-iPShet 3F-1 (RRID:CVCL_W315)
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[45] (c.52CAG(45)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (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 Sex unspecified
Age at sampling 36Y
Category Induced pluripotent stem cell
Publications

PubMed=22405424; DOI=10.1016/j.nbd.2011.12.042
Stefano Camnasio, Alessia Delli Carri, Angelo Lombardo, Iwona Grad, Caterina Mariotti, Alessia Castucci, Bjorn Rozell, Pietro Lo Riso, Valentina Castiglioni, Chiara Zuccato, Christelle Rochon ...Show all 22 authors... , Yasuhiro Takashima, Giuseppe R. Diaferia, Ida Biunno, Cinzia Gellera, Marisa Elisabetta Elena Jaconi Devaud, Austin Gerard Smith, Outi Hovatta, Luigi Naldini, Stefano Di Donato, Anis Feki, Elena Cattaneo; Show fewer authors
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; Q54882086
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number10