Cellosaurus logo
expasy logo

Cellosaurus CHUQi001-A (CVCL_RL75)

[Text][XML][JSON]
Cell line name CHUQi001-A
Synonyms 522-2666-2
Accession CVCL_RL75
Resource Identification Initiative To cite this cell line use: CHUQi001-A (RRID:CVCL_RL75)
Comments From: CHU de Quebec Research Center, Universite Laval; Quebec; Canada.
Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2933; DMPK; Repeat_expansion; c.*224CTG[~200] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=29274549).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_RL74 (522-2666)
Sex of cell Male
Age at sampling 26Y
Category Induced pluripotent stem cell
Publications

PubMed=29274549; DOI=10.1016/j.scr.2017.12.010
Laurie Martineau, Veronique Racine, Siham Ait Benichou, Jack Puymirat;
Lymphoblastoids cell lines -- derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)200 expansion in the DMPK gene: CHUQi001-A.
Stem Cell Res. 26:103-106(2018)

Cross-references
Cell line databases/resources hPSCreg; CHUQi001-A
SKIP; SKIP003062
Biological sample resources BioSamples; SAMEA104271492
Encyclopedic resources Wikidata; Q54813330
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number9