ID   H271 C1 GC
AC   CVCL_DQ65
SY   H271 c1 GC; H271 clone1 GC; H271 clone 1 GC
DR   Wikidata; Q54872037
RX   PubMed=27345809;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: 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).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C148315; Spinocerebellar ataxia type 2
DI   ORDO; Orphanet_98756; Spinocerebellar ataxia type 2
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_9U78 ! H271 C1
SX   Male
AG   33Y
CA   Induced pluripotent stem cell
DT   Created: 13-07-16; Last updated: 19-12-24; Version: 13
//
RX   PubMed=27345809; DOI=10.1016/j.scr.2015.12.028;
RA   Marthaler A.G., Schmid B., Tubsuwan A., Poulsen U.B.,
RA   Engelbrecht A.F., Mau-Holzmann U.A., Hyttel P., Nielsen J.E.,
RA   Nielsen T.T., Holst B.;
RT   "Generation of an isogenic, gene-corrected control cell line of the
RT   spinocerebellar ataxia type 2 patient-derived iPSC line H271.";
RL   Stem Cell Res. 16:180-183(2016).
//