ID   IBCHi001-A
AC   CVCL_XC40
SY   iDRPLA_8
DR   hPSCreg; IBCHi001-A
DR   Wikidata; Q94312588
RX   PubMed=31374462;
CC   From: Institute of Bioorganic Chemistry Polish Academy of Sciences; Poznan; Poland.
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] (PubMed=31374462).
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)
HI   CVCL_T902 ! GM13716
SX   Male
AG   15Y
CA   Induced pluripotent stem cell
DT   Created: 06-09-19; Last updated: 29-06-23; Version: 9
//
RX   PubMed=31374462; DOI=10.1016/j.scr.2019.101512;
RA   Kozlowska E., Ciolak A., Olejniczak M., Fiszer A.;
RT   "Generation of human iPS cell line IBCHi001-A from
RT   dentatorubral-pallidoluysian atrophy patient's fibroblasts.";
RL   Stem Cell Res. 39:101512-101512(2019).
//