Cellosaurus cell line H196 C7 GC (CVCL

Cross-references
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 Adele G. Marthaler, Benjamin Schmid, Alisa Tubsuwan, Ulla Bekker Poulsen, Alexander F. Engelbrecht, Ulrike A. Mau-Holzmann, Poul Hyttel, Jorgen E. Nielsen, Troels T. Nielsen, Bjorn Holst; 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)
Encyclopedic resources	Wikidata; Q54871979
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	14