ID   H271 C1
AC   CVCL_9U78
SY   H271 clone 1; H271 c 1; H271
DR   Wikidata; Q54872035
RX   PubMed=27345803;
CC   From: Bioneer A/S; Horsholm; Denmark.
CC   Sequence variation: Mutation; HGNC; HGNC:10555; ATXN2; Repeat_expansion; p.Gln166[44] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous; Note=The other allele has 22 repeats (PubMed=27345803).
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   33Y
CA   Induced pluripotent stem cell
DT   Created: 23-02-16; Last updated: 19-12-24; Version: 15
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RX   PubMed=27345803; DOI=10.1016/j.scr.2015.12.027;
RA   Marthaler A.G., Tubsuwan A., Schmid B., Poulsen U.B., Hyttel P.,
RA   Nielsen J.E., Nielsen T.T., Holst B.;
RT   "Generation of spinocerebellar ataxia type 2 patient-derived iPSC line
RT   H271.";
RL   Stem Cell Res. 16:159-161(2016).
//