ID   GM13716
AC   CVCL_T902
DR   CLO; CLO_0032792
DR   BioSample; SAMN00802570
DR   Coriell; GM13716
DR   Wikidata; Q54846749
RX   PubMed=23364790;
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 3033; ATN1; Repeat_expansion; CAG[68] (g.17267CAG[(54-68)]); ClinVar=VCV000590267; Zygosity=Heterozygous; Note=The non-expanded allele has CAG[16] (Coriell=GM13716).
CC   Cell type: Fibroblast; CL=CL_0000057.
DI   NCIt; C122653; Dentatorubral-pallidoluysian atrophy
DI   ORDO; Orphanet_101; Dentatorubral pallidoluysian atrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   15Y
CA   Finite cell line
DT   Created: 03-02-14; Last updated: 30-01-24; Version: 15
//
RX   PubMed=23364790; DOI=10.1074/jbc.M112.408211;
RA   Nihei Y., Ito D., Okada Y., Akamatsu W., Yagi T., Yoshizaki T.,
RA   Okano H., Suzuki N.;
RT   "Enhanced aggregation of androgen receptor in induced pluripotent stem
RT   cell-derived neurons from spinal and bulbar muscular atrophy.";
RL   J. Biol. Chem. 288:8043-8052(2013).
//