ID   chHES-472
AC   CVCL_XA13
DR   Wikidata; Q93449754
RX   PubMed=27934588;
CC   From: National Engineering and Research Center of Human Stem Cells; Changsha; China.
CC   Sequence variation: Mutation; HGNC; HGNC:7106; ATXN3; Repeat_expansion; c.892CAG[~74]; Zygosity=Heterozygous (PubMed=27934588).
CC   Derived from site: In situ; Blastocyst; UBERON=UBERON_0000358.
CC   Cell type: Embryonic stem cell; CL=CL_0002322.
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   Blastocyst stage
CA   Embryonic stem cell
DT   Created: 06-09-19; Last updated: 19-12-24; Version: 8
//
RX   PubMed=27934588; DOI=10.1016/j.scr.2016.10.001;
RA   Liu L.-J., Zeng S.-C., Sun Y., Zhou X.-Y., Chen J., Du J., Lu G.-X.,
RA   Lin G., Ouyang Q.;
RT   "Generation of human embryonic stem cell line chHES-472 from abnormal
RT   embryos diagnosed with spinocerebellar ataxia type 3.";
RL   Stem Cell Res. 17:584-586(2016).
//