Cellosaurus logo
expasy logo

Cellosaurus H266 C10 (CVCL_AB82)

[Text][XML][JSON]
Cell line name H266 C10
Synonyms H266 c10; H266 clone 10
Accession CVCL_AB82
Resource Identification Initiative To cite this cell line use: H266 C10 (RRID:CVCL_AB82)
Comments From: Bioneer A/S; Horsholm; Denmark.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[44] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=27345805).
Disease Spinocerebellar ataxia type 2 (NCIt: C148315)
Spinocerebellar ataxia type 2 (ORDO: Orphanet_98756)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_DQ64 (H266 C10 GC)
Sex of cell Female
Age at sampling 25Y
Category Induced pluripotent stem cell
Publications

PubMed=27345805; DOI=10.1016/j.scr.2015.12.029
Adele G. Marthaler, Benjamin Schmid, Alisa Tubsuwan, Ulla Bekker Poulsen, Poul Hyttel, Troels T. Nielsen, Jorgen E. Nielsen, Bjorn Holst;
Generation of spinocerebellar ataxia type 2 patient-derived iPSC line H266.
Stem Cell Res. 16:166-169(2016)

Cross-references
Encyclopedic resources Wikidata; Q54872032
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number15