ID   CSUXHi005-A
AC   CVCL_A4GP
SY   UiPSC-SCA3-002-C5
DR   BioSamples; SAMEA7996636
DR   hPSCreg; CSUXHi005-A
DR   Wikidata; Q105506723
RX   PubMed=33761381;
CC   From: Department of Neurology, Xiangya Hospital of Central South University; Changsha; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[76]; Zygosity=Heterozygous; Note=The other allele has 26 repeats (PubMed=33761381).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
DI   NCIt; C84830; Spinocerebellar ataxia type 3
DI   ORDO; Orphanet_98757; Spinocerebellar ataxia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   32Y
CA   Induced pluripotent stem cell
DT   Created: 12-01-21; Last updated: 29-06-23; Version: 4
//
RX   PubMed=33761381; DOI=10.1016/j.scr.2021.102289;
RA   He L., Han X.-B., Zhao H.-F., Li S., Chen Z., Wang C.-R., Wang S.,
RA   Peng L.-L., Deng W.-Y., Li Z.-Y., Tang B.-S., Jiang H.;
RT   "Generation of spinocerebellar ataxia type 3 patient-derived induced
RT   pluripotent stem cell line (CSUXHi005-A) from human urine epithelial
RT   cells.";
RL   Stem Cell Res. 53:102289-102289(2021).
//