ID   ZZUi004-A
AC   CVCL_LE97
SY   ZZU-iPS-SCA3-001; LBK-SCA3-4-2
DR   BioSamples; SAMEA104388090
DR   hPSCreg; ZZUi004-A
DR   SKIP; SKIP003147
DR   Wikidata; Q54996166
RX   PubMed=29444500;
CC   From: Zhengzhou University First Affiliated Hospital; Zhengzhou; China.
CC   Population: Chinese; Han.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[76]; Zygosity=Heterozygous; Note=The other allele has 14 repeats (PubMed=29444500).
CC   Derived from site: In situ; Urine; UBERON=UBERON_0001088.
ST   Source(s): PubMed=29444500
ST   Amelogenin: X
ST   CSF1PO: 10,12
ST   D13S317: 8,12
ST   D16S539: 12
ST   D21S11: 28,31
ST   D5S818: 11,12
ST   D7S820: 8,12
ST   TH01: 7,9
ST   TPOX: 8
ST   vWA: 16,20
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   31Y
CA   Induced pluripotent stem cell
DT   Created: 22-08-17; Last updated: 29-06-23; Version: 13
//
RX   PubMed=29444500; DOI=10.1016/j.scr.2018.01.027;
RA   Wang Y.-L., Shi C.-H., Wang Z., Sun H.-F., Yang Z.-H., Zhang F.,
RA   Liu Y.-T., Liu H., Jiang C.-Y., Zhang S.-T., Xu Y.-M., Wen X.-J.;
RT   "Generation of induced pluripotent stem cell line (ZZUi004-A) from
RT   urine sample of a patient with spinocerebellar ataxia type 3.";
RL   Stem Cell Res. 28:71-74(2018).
//