Cellosaurus cell line H271 C1 GC (CVCL

Cross-references
Cell line name	H271 C1 GC
Synonyms	H271 c1 GC; H271 clone1 GC; H271 clone 1 GC
Accession	CVCL_DQ65
Resource Identification Initiative	To cite this cell line use: H271 C1 GC (RRID:CVCL_DQ65)
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[44] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=By CRISPR/Cas9. The original 44 CAG repeat has been replaced with a 22 CAG repeat (PubMed=27345809).
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_9U78 (H271 C1)
Sex of cell	Male
Age at sampling	33Y
Category	Induced pluripotent stem cell
Publications	PubMed=27345809; DOI=10.1016/j.scr.2015.12.028 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 H271. Stem Cell Res. 16:180-183(2016)
Encyclopedic resources	Wikidata; Q54872037
Entry history
Entry creation	13-Jul-2016
Last entry update	19-Dec-2024
Version number	13