ID   UM134-1 PGD
AC   CVCL_X365
SY   UM134-1-PGD; UM134-1; SCA3-hESC; UMICHe001-A
DR   BioSamples; SAMEA110401634
DR   hPSCreg; UMICHe001-A
DR   NIHhESC; NIHhESC-14-0286
DR   Wikidata; Q54991007
RX   PubMed=31374463;
RX   PubMed=35952620;
WW   https://www.mstemcell.org/purchase-stem-cell-lines/
CC   From: University of Michigan; Ann Arbor; USA.
CC   Registration: NIH Human Embryonic Stem Cell Registry; NIHhESC-14-0286.
CC   Sequence variation: Mutation; HGNC; 7106; ATXN3; Repeat_expansion; c.892CAG[70]; Zygosity=Heterozygous; Note=The other allele has 13 repeats (PubMed=31374463; PubMed=35952620).
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: 17-07-14; Last updated: 29-06-23; Version: 15
//
RX   PubMed=31374463; DOI=10.1016/j.scr.2019.101504;
RA   Moore L.R., Keller L., Bushart D.D., Delatorre R.G., Li D.-J.,
RA   McLoughlin H.S., do Carmo Costa M., Shakkottai V.G., Smith G.D.,
RA   Paulson H.L.;
RT   "Antisense oligonucleotide therapy rescues aggresome formation in a
RT   novel spinocerebellar ataxia type 3 human embryonic stem cell line.";
RL   Stem Cell Res. 39:101504-101504(2019).
//
RX   PubMed=35952620; DOI=10.1016/j.scr.2022.102873;
RA   Moore L.R., Keller L., Paulson H.L., Smith G.D.;
RT   "Derivation of spinocerebellar ataxia type 3 human embryonic stem cell
RT   line UMICHe001-A/UM134-1.";
RL   Stem Cell Res. 64:102873-102873(2022).
//