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Cellosaurus HD28i.2 (CVCL_W585)

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Cell line name HD28i.2
Accession CVCL_W585
Resource Identification Initiative To cite this cell line use: HD28i.2 (RRID:CVCL_W585)
Comments Population: Caucasian.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Gene amplification; HGNC; HGNC:11118; SMN2; Extensive; Zygosity=Unspecified; Note=5 copies (from parent cell line).
  • Mutation; HGNC; HGNC:11117; SMN1; Unexplicit; Ex7-8del; Zygosity=Heterozygous (from parent cell line).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_F173 (GM03814)
Sex of cell Female
Age at sampling 30Y
Category Induced pluripotent stem cell
Publications

PubMed=22748968; DOI=10.1016/j.stem.2012.04.027; PMCID=PMC3804072
HD iPSC Consortium
Induced pluripotent stem cells from patients with Huntington's disease show CAG-repeat-expansion-associated phenotypes.
Cell Stem Cell 11:264-278(2012)

Cross-references
Encyclopedic resources Wikidata; Q54882113
Entry history
Entry creation16-Apr-2014
Last entry update19-Dec-2024
Version number13