ID   CBRCULi002-A
AC   CVCL_C9IQ
SY   19-1035-10; 19-1035 clone 10
DR   BioSamples; SAMEA112366214
DR   hPSCreg; CBRCULi002-A
DR   Wikidata; Q123030860
RX   PubMed=36739767;
CC   From: CERVO Brain Research Centre, Universite Laval; Quebec; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~1300] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=36739767).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   55Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=36739767; DOI=10.1016/j.scr.2023.103037;
RA   Jauvin D., Pierre M., Boutjdir M., Puymirat J., Chahine M.;
RT   "Generation of four myotonic dystrophy type 1 patient iPSC lines
RT   (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a
RT   control (CBRCULi001-A) derived from lymphoblastoids cell lines.";
RL   Stem Cell Res. 67:103037-103037(2023).
//