ID   CBRCULi013-A
AC   CVCL_C9J1
SY   GM04602-2; GM04602 clone 2
DR   BioSamples; SAMEA114243997
DR   hPSCreg; CBRCULi013-A
DR   Wikidata; Q123030871
RX   PubMed=37871474;
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[~1700] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (from parent cell line).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84679; Dystrophia myotonica 1
DI   ORDO; Orphanet_273; Steinert myotonic dystrophy
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_Y794 ! GM04602
SX   Female
AG   2Y
CA   Induced pluripotent stem cell
DT   Created: 05-10-23; Last updated: 19-12-24; Version: 3
//
RX   PubMed=37871474; DOI=10.1016/j.scr.2023.103234;
RA   De Serres-Berard T., Jauvin D., Puymirat J., Chahine M.;
RT   "Generation of induced pluripotent stem cell lines from pediatric
RT   patients with congenital myotonic dystrophy (CBRCULi012-A and
RT   CBRCULi013-A) and age-matched controls (CBRCULi010-A and
RT   CBRCULi011-A).";
RL   Stem Cell Res. 72:103234-103234(2023).
//