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Cellosaurus H196 C7 (CVCL_AB81)

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Cell line name H196 C7
Synonyms H196 c7; H196 clone 7
Accession CVCL_AB81
Resource Identification Initiative To cite this cell line use: H196 C7 (RRID:CVCL_AB81)
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[36] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=27345814).
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_DQ63 (H196 C7 GC)
Sex of cell Male
Age at sampling 52Y
Category Induced pluripotent stem cell
Publications

PubMed=27345814; DOI=10.1016/j.scr.2015.12.049
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 H196.
Stem Cell Res. 16:199-201(2016)

Cross-references
Encyclopedic resources Wikidata; Q54871978
Entry history
Entry creation23-Feb-2016
Last entry update19-Dec-2024
Version number15