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Cellosaurus CBRCULi013-A (CVCL_C9J1)

[Text version]
Cell line name CBRCULi013-A
Synonyms GM04602-2; GM04602 clone 2
Accession CVCL_C9J1
Resource Identification Initiative To cite this cell line use: CBRCULi013-A (RRID:CVCL_C9J1)
Comments From: CERVO Brain Research Centre, Universite Laval; Quebec; Canada.
Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2933; DMPK; Repeat_expansion; c.*224CTG[~1700] (c.*224CTG[(51_?)]); ClinVar=VCV000005049; Zygosity=Heterozygous (from parent cell line).
Disease Dystrophia myotonica 1 (NCIt: C84679)
Steinert myotonic dystrophy (ORDO: Orphanet_273)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_Y794 (GM04602)
Sex of cell Female
Age at sampling 2Y
Category Induced pluripotent stem cell
Publications

PubMed=37871474; DOI=10.1016/j.scr.2023.103234
De Serres-Berard T., Jauvin D., Puymirat J., Chahine M.
Generation of induced pluripotent stem cell lines from pediatric patients with congenital myotonic dystrophy (CBRCULi012-A and CBRCULi013-A) and age-matched controls (CBRCULi010-A and CBRCULi011-A).
Stem Cell Res. 72:103234-103234(2023)

Cross-references
Cell line databases/resources hPSCreg; CBRCULi013-A
Biological sample resources BioSamples; SAMEA114243997
Encyclopedic resources Wikidata; Q123030871
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2