ID   CBRCULi007-A
AC   CVCL_C9IV
SY   14-0730-1; 14-0730 clone 1
DR   BioSamples; SAMEA112946755
DR   hPSCreg; CBRCULi007-A
DR   Wikidata; Q123030865
RX   PubMed=37352653;
CC   From: CERVO Brain Research Centre, Universite Laval; Quebec; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~700] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=37352653).
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   60Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 30-01-24; Version: 2
//
RX   PubMed=37352653; DOI=10.1016/j.scr.2023.103148;
RA   Chahine M., Jauvin D., Pierre M., Puymirat J., Boutjdir M.;
RT   "Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy
RT   type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control
RT   (CBRCULi006-A).";
RL   Stem Cell Res. 71:103148-103148(2023).
//