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Cellosaurus CBRCULi020-A (CVCL_D6FY)

[Text version]
Cell line name CBRCULi020-A
Synonyms 79-1761-15; 79-1761 clone 15
Accession CVCL_D6FY
Resource Identification Initiative To cite this cell line use: CBRCULi020-A (RRID:CVCL_D6FY)
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[~1200] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=38232626).
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 29Y
Category Induced pluripotent stem cell
Publications

PubMed=38490135; DOI=10.1016/j.scr.2024.103375
Marion Pierre, Dominic Jauvin, Jack Puymirat, Mohamed Boutjdir, Mohamed Chahine;
Generation of three myotonic dystrophy type 1 patient iPSC lines (CBRCULi018-A, CBRCULi019-A, CBRCULi020-A) derived from lymphoblastoid cell lines for disease modelling and therapeutic research.
Stem Cell Res. 76:103375-103375(2024)

Cross-references
Cell line databases/resources hPSCreg; CBRCULi020-A
Biological sample resources BioSamples; SAMEA115098172
Encyclopedic resources Wikidata; Q127380407
Entry history
Entry creation02-May-2024
Last entry update19-Dec-2024
Version number3