ID   CBRCULi015-A
AC   CVCL_C9J3
SY   GM23375-1; GM23375 clone 1
DR   BioSamples; SAMEA114860034
DR   hPSCreg; CBRCULi015-A
DR   Wikidata; Q123030873
RX   PubMed=38704930;
CC   From: CERVO Brain Research Centre, Universite Laval; Quebec; Canada.
CC   Population: Iraqi.
CC   Sequence variation: Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~1700-1800] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=38704930).
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)
HI   CVCL_BV56 ! GM23375
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 5
//
RX   PubMed=38704930; DOI=10.1016/j.scr.2024.103430;
RA   De Serres-Berard, Thiery
RA   Jauvin, Dominic
RA   Pouliot, Valerie
RA   Puymirat, Jack
RA   Chahine, Mohamed
RT   "Generation of a lymphoblastoid-derived induced pluripotent stem cell
RT   line (CBRCULi015-A) from a patient with congenital myotonic
RT   dystrophy.";
RL   Stem Cell Res. 77:103430-103430(2024).
//