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Cellosaurus CCMi003-A (CVCL_XI81)

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Cell line name CCMi003-A
Synonyms DMD3 C2; DMD3
Accession CVCL_XI81
Resource Identification Initiative To cite this cell line use: CCMi003-A (RRID:CVCL_XI81)
Comments From: Centro Cardiologico Monzino; Milan; Italy.
Population: Caucasian.
Derived from site: In situ; Skin, dermis; UBERON=UBERON_0002067.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:2928; DMD; Unexplicit; Ex51-53del; Zygosity=Hemizygous (PubMed=31465894).
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 10Y
Category Induced pluripotent stem cell
Publications

PubMed=31465894; DOI=10.1016/j.scr.2019.101544
Davide Rovina, Elisa Castiglioni, Andrea Farini, Marzia Bellichi, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Rosaria Santoro, Yvan Torrente, Giulio Pompilio, Aoife Gowran;
Establishment of a Duchenne muscular dystrophy patient-derived induced pluripotent stem cell line carrying a deletion of exons 51-53 of the dystrophin gene (CCMi003-A).
Stem Cell Res. 40:101544-101544(2019)

Cross-references
Cell line databases/resources hPSCreg; CCMi003-A
Encyclopedic resources Wikidata; Q93445530
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9