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Cellosaurus UCLi012-A (CVCL_WT96)

[Text version]
Cell line name UCLi012-A
Synonyms DMD iPSCs ex.70
Accession CVCL_WT96
Resource Identification Initiative To cite this cell line use: UCLi012-A (RRID:CVCL_WT96)
Comments From: University College London; London; United Kingdom.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2928; DMD; Simple; p.Arg3381Ter (c.10141C>T); ClinVar=VCV000011273; Zygosity=Hemizygous (PubMed=32087527).
Disease Duchenne muscular dystrophy (NCIt: C75482)
Duchenne muscular dystrophy (ORDO: Orphanet_98896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 3Y
Category Induced pluripotent stem cell
Publications

PubMed=32087527; DOI=10.1016/j.scr.2019.101688; PMCID=PMC7057262
Ferrari G., Muntoni F., Tedesco F.S.
Generation of two genomic-integration-free DMD iPSC lines with mutations affecting all dystrophin isoforms and potentially amenable to exon-skipping.
Stem Cell Res. 43:101688-101688(2020)

Cross-references
Cell line databases/resources hPSCreg; UCLi012-A
Biological sample resources BioSamples; SAMEA5574041
Encyclopedic resources Wikidata; Q98133849
Entry history
Entry creation05-Jul-2019
Last entry update29-Jun-2023
Version number8