ID   H196 C7
AC   CVCL_AB81
SY   H196 c7; H196 clone 7
DR   Wikidata; Q54871978
RX   PubMed=27345814;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: 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).
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)
SX   Male
AG   52Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 15
//
RX   PubMed=27345814; DOI=10.1016/j.scr.2015.12.049;
RA   Marthaler A.G., Schmid B., Tubsuwan A., Poulsen U.B., Hyttel P.,
RA   Nielsen T.T., Nielsen J.E., Holst B.;
RT   "Generation of spinocerebellar ataxia type 2 patient-derived iPSC line
RT   H196.";
RL   Stem Cell Res. 16:199-201(2016).
//