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Cellosaurus CBRCULi015-A (CVCL_C9J3)

[Text version]
Cell line name CBRCULi015-A
Synonyms GM23375-1; GM23375 clone 1
Accession CVCL_C9J3
Resource Identification Initiative To cite this cell line use: CBRCULi015-A (RRID:CVCL_C9J3)
Comments From: CERVO Brain Research Centre, Universite Laval; Quebec; Canada.
Population: Iraqi.
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[~1700-1800] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (PubMed=38704930).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_BV56 (GM23375)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=38704930; DOI=10.1016/j.scr.2024.103430
De Serres-Berard T., Jauvin D., Pouliot V., Puymirat J., Chahine M.
Generation of a lymphoblastoid-derived induced pluripotent stem cell line (CBRCULi015-A) from a patient with congenital myotonic dystrophy.
Stem Cell Res. 77:103430-103430(2024)

Cross-references
Cell line databases/resources hPSCreg; CBRCULi015-A
Biological sample resources BioSamples; SAMEA114860034
Encyclopedic resources Wikidata; Q123030873
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number5