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Cellosaurus UW83iCTR-i.8 (CVCL_W565)

[Text version]
Cell line name UW83iCTR-i.8
Synonyms 83iCTR
Accession CVCL_W565
Resource Identification Initiative To cite this cell line use: UW83iCTR-i.8 (RRID:CVCL_W565)
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; 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=22723941; DOI=10.1371/journal.pone.0039113
Sareen D., Ebert A.D., Heins B.M., McGivern J.V., Ornelas L., Svendsen C.N.
Inhibition of apoptosis blocks human motor neuron cell death in a stem cell model of spinal muscular atrophy.
PLoS ONE 7:E39113-E39113(2012)

Cross-references
Encyclopedic resources Wikidata; Q54992389
Entry history
Entry creation16-Apr-2014
Last entry update29-Jun-2023
Version number11