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Cellosaurus H196 C7 GC (CVCL_DQ63)

[Text version]
Cell line name H196 C7 GC
Synonyms H196 c7 GC; H196 clone7 GC; H196 clone 7 GC
Accession CVCL_DQ63
Resource Identification Initiative To cite this cell line use: H196 C7 GC (RRID:CVCL_DQ63)
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_corrected; p.Gln166[36] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=By CRISPR/Cas9. The original 36 CAG repeat has been replaced with a 22 CAG repeat (PubMed=27345804).
Disease Spinocerebellar ataxia type 2 (NCIt: C148315)
Spinocerebellar ataxia type 2 (ORDO: Orphanet_98756)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_AB81 (H196 C7)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=27345804; DOI=10.1016/j.scr.2015.12.031
Marthaler A.G., Schmid B., Tubsuwan A., Poulsen U.B., Engelbrecht A.F., Mau-Holzmann U.A., Hyttel P., Nielsen J.E., Nielsen T.T., Holst B.
Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H196.
Stem Cell Res. 16:162-165(2016)

Cross-references
Encyclopedic resources Wikidata; Q54871979
Entry history
Entry creation13-Jul-2016
Last entry update19-Dec-2024
Version number14