Cellosaurus logo
expasy logo

Cellosaurus CBRCULi007-A (CVCL_C9IV)

[Text version]
Cell line name CBRCULi007-A
Synonyms 14-0730-1; 14-0730 clone 1
Accession CVCL_C9IV
Resource Identification Initiative To cite this cell line use: CBRCULi007-A (RRID:CVCL_C9IV)
Comments From: CERVO Brain Research Centre, 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[~700] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=37352653).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 60Y
Category Induced pluripotent stem cell
Publications

PubMed=37352653; DOI=10.1016/j.scr.2023.103148
Chahine M., Jauvin D., Pierre M., Puymirat J., Boutjdir M.
Lymphoblastoid cell lines derived from iPSCs of a myotonic dystrophy type 1 patient carrying 700 CTG repeats (CBRCULi007-A) and a control (CBRCULi006-A).
Stem Cell Res. 71:103148-103148(2023)

Cross-references
Cell line databases/resources hPSCreg; CBRCULi007-A
Biological sample resources BioSamples; SAMEA112946755
Encyclopedic resources Wikidata; Q123030865
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3