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Cellosaurus HD-iPS1 (CVCL_D078)

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Cell line name HD-iPS1
Synonyms HD-IPS1; HD1-iPS1
Accession CVCL_D078
Resource Identification Initiative To cite this cell line use: HD-iPS1 (RRID:CVCL_D078)
Comments From: Children's Hospital Boston; Boston; USA.
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[71] (c.52CAG(71)) (c.52CAG[(40_?)]); ClinVar=VCV000000409; Zygosity=Heterozygous (PubMed=18691744).
Disease Huntington's disease (NCIt: C82342)
Huntington disease (ORDO: Orphanet_399)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_8519 (GM04281)
Sex of cell Female
Age at sampling 20Y
Category Induced pluripotent stem cell
Publications

PubMed=18691744; DOI=10.1016/j.cell.2008.07.041; PMCID=PMC2633781
In-Hyun Park, Natasha Arora, Hong-Guang Huo, Nimet Maherali, Tim Ahfeldt, Akiko Shimamura, M. William Lensch, Chad A. Cowan, Konrad Hochedlinger, George Quentin Daley;
Disease-specific induced pluripotent stem cells.
Cell 134:877-886(2008)

Cross-references
Encyclopedic resources Wikidata; Q54882083
Entry history
Entry creation22-Oct-2012
Last entry update19-Dec-2024
Version number18