ID   CBRCULi020-A
AC   CVCL_D6FY
SY   79-1761-15; 79-1761 clone 15
DR   BioSamples; SAMEA115098172
DR   hPSCreg; CBRCULi020-A
DR   Wikidata; Q127380407
RX   PubMed=38490135;
CC   From: CERVO Brain Research Centre, Universite Laval; Quebec; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1200] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=38232626).
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   Female
AG   29Y
CA   Induced pluripotent stem cell
DT   Created: 02-05-24; Last updated: 19-12-24; Version: 3
//
RX   PubMed=38490135; DOI=10.1016/j.scr.2024.103375;
RA   Pierre, Marion
RA   Jauvin, Dominic
RA   Puymirat, Jack
RA   Boutjdir, Mohamed
RA   Chahine, Mohamed
RT   "Generation of three myotonic dystrophy type 1 patient iPSC lines
RT   (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from
RT   lymphoblastoid cell lines for disease modelling and therapeutic
RT   research.";
RL   Stem Cell Res. 76:103375-103375(2024).
//