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Cellosaurus CBRCULi003-A (CVCL_C9IR)

[Text version]
Cell line name CBRCULi003-A
Synonyms 59-0944-2; 59-0944 clone 2
Accession CVCL_C9IR
Resource Identification Initiative To cite this cell line use: CBRCULi003-A (RRID:CVCL_C9IR)
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[~1500] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=36739767).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 46Y
Category Induced pluripotent stem cell
Publications

PubMed=36739767; DOI=10.1016/j.scr.2023.103037
Dominic Jauvin, Marion Pierre, Mohamed Boutjdir, Jack Puymirat, Mohamed Chahine;
Generation of four myotonic dystrophy type 1 patient iPSC lines (CBRCULi002-A, CBRCULi003-A, CBRCULi004-A, CBRCULi005-A) and a control (CBRCULi001-A) derived from lymphoblastoids cell lines.
Stem Cell Res. 67:103037-103037(2023)

Cross-references
Cell line databases/resources hPSCreg; CBRCULi003-A
Biological sample resources BioSamples; SAMEA112366222
Encyclopedic resources Wikidata; Q123030861
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3