ID   CHUQi001-A
AC   CVCL_RL75
SY   522-2666-2
DR   BioSamples; SAMEA104271492
DR   hPSCreg; CHUQi001-A
DR   SKIP; SKIP003062
DR   Wikidata; Q54813330
RX   PubMed=29274549;
CC   From: CHU de Quebec Research Center, Universite Laval; Quebec; Canada.
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~200] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=29274549).
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_RL74 ! 522-2666
SX   Male
AG   26Y
CA   Induced pluripotent stem cell
DT   Created: 05-03-18; Last updated: 29-06-23; Version: 8
//
RX   PubMed=29274549; DOI=10.1016/j.scr.2017.12.010;
RA   Martineau L., Racine V., Benichou S.A., Puymirat J.;
RT   "Lymphoblastoids cell lines -- derived iPSC line from a 26-year-old
RT   myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the
RT   DMPK gene: CHUQi001-A.";
RL   Stem Cell Res. 26:103-106(2018).
//