ID   CHOPi003-A
AC   CVCL_UL70
SY   CHOPSCA2-2
DR   hPSCreg; CHOPi003-A
DR   Wikidata; Q93453046
RX   PubMed=30611021;
CC   From: Children's Hospital of Philadelphia; Philadelphia; USA.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 10555; ATXN2; Repeat_expansion; p.Gln166[43] (p.Gln166(>=33)); ClinVar=VCV000065668; Zygosity=Heterozygous (PubMed=30611021).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   28Y
CA   Induced pluripotent stem cell
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 7
//
RX   PubMed=30611021; DOI=10.1016/j.scr.2018.101361;
RA   Maguire J.A., Gagne A.L., Gonzalez-Alegre P., Davidson B.L.,
RA   Shakkottai V., Gadue P., French D.L.;
RT   "Generation of spinocerebellar ataxia type 2 induced pluripotent stem
RT   cell lines, CHOPi002-A and CHOPi003-A, from patients with abnormal
RT   CAG repeats in the coding region of the ATXN2 gene.";
RL   Stem Cell Res. 34:101361-101361(2019).
//