ID   GZHMCi011-A
AC   CVCL_D0F5
SY   SCA3-LXM
DR   BioSamples; SAMEA114245588
DR   hPSCreg; GZHMCi011-A
DR   Wikidata; Q123031383
RX   PubMed=37866221;
CC   From: The Third Affiliated Hospital of Guangzhou Medical College; Guangzhou; China.
CC   Population: Chinese.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[63]; Zygosity=Heterozygous; Note=The other allele has 14 repeats (PubMed=37866221).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84830; Spinocerebellar ataxia type 3
DI   ORDO; Orphanet_98757; Spinocerebellar ataxia type 3
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37866221; DOI=10.1016/j.scr.2023.103190;
RA   Guan H.-M., Sun X.-F., Song B.;
RT   "Establishment of human-induced pluripotent stem cell GZHMCi0011-A
RT   from peripheral blood mononuclear cells from a volunteer with 14/63
RT   CAG repeats of the ATXN3 mutation.";
RL   Stem Cell Res. 72:103190-103190(2023).
//