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Cellosaurus HD-iPShom 4F-2 (CVCL_W313)

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Cell line name HD-iPShom 4F-2
Accession CVCL_W313
Resource Identification Initiative To cite this cell line use: HD-iPShom 4F-2 (RRID:CVCL_W313)
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_W311 ! HD-iPShom 3F-2
CVCL_W312 ! HD-iPShom 4F-1
Sex of cell Male
Age at sampling 59Y
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; Q54882093
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number10