Cellosaurus logo
expasy logo

Cellosaurus CBRCULi002-A (CVCL_C9IQ)

[Text][XML][JSON]
Cell line name CBRCULi002-A
Synonyms 19-1035-10; 19-1035 clone 10
Accession CVCL_C9IQ
Resource Identification Initiative To cite this cell line use: CBRCULi002-A (RRID:CVCL_C9IQ)
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[~1300] (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 Male
Age at sampling 55Y
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; CBRCULi002-A
Biological sample resources BioSamples; SAMEA112366214
Encyclopedic resources Wikidata; Q123030860
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number3