ID   CSUXHi001-A
AC   CVCL_XI42
SY   XHCSUi001-A; UiPSC-SCA3-001
DR   BioSamples; SAMEA6114048
DR   hPSCreg; CSUXHi001-A
DR   SKIP; SKIP005566
DR   Wikidata; Q93459769
RX   PubMed=31491691;
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[74]; Zygosity=Heterozygous (PubMed=31491691).
CC   Donor information: At sampling donor was not affected with Machado-Joseph disease but at significant risk for disease.
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
ST   Source(s): PubMed=31491691
ST   Amelogenin: X
ST   CSF1PO: 12
ST   D12S391: 18,19
ST   D13S317: 8,9
ST   D16S539: 11,13
ST   D18S51: 13,15.2
ST   D19S433: 14.2,15.2
ST   D1S1656: 12,16
ST   D21S11: 29,33.2
ST   D2S1338: 20,24
ST   D3S1358: 16,17
ST   D5S818: 10,11
ST   D6S1043: 14,18
ST   D7S820: 11,13
ST   D8S1179: 12,15,16
ST   FGA: 24,25
ST   Penta D: 9,13
ST   Penta E: 5,12
ST   TH01: 7,9
ST   TPOX: 8,11
ST   vWA: 14,16
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   12Y
CA   Induced pluripotent stem cell
DT   Created: 19-12-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31491691; DOI=10.1016/j.scr.2019.101555;
RA   He L., Ye W., Chen Z., Wang C.-R., Zhao H.-F., Li S., Peng L.-L.,
RA   Han X.-B., Zhou T.-C., Li Z.-Y., Tang B.-S., Jiang H.;
RT   "Generation of an induced pluripotent stem cell line (XHCSUi001-A)
RT   from urine cells of a patient with spinocerebellar ataxia type 3.";
RL   Stem Cell Res. 40:101555-101555(2019).
//