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Cellosaurus CCMi005-A (CVCL_B3NP)

[Text version]
Cell line name CCMi005-A
Synonyms DMD4 C3
Accession CVCL_B3NP
Resource Identification Initiative To cite this cell line use: CCMi005-A (RRID:CVCL_B3NP)
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; Ex45-50del; Zygosity=Hemizygous (PubMed=35961103).
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=35961103; DOI=10.1016/j.scr.2022.102889
Davide Rovina, Elisa Castiglioni, Sara Mallia, Martina Rabino, Andrea Farini, Marzia Belicchi, Giusy Di Giuseppe, Cristina Gervasini, Yvan Torrente, Giulio Pompilio, Aoife Gowran;
Reprogramming of dermal fibroblasts from a Duchenne muscular dystrophy patient carrying a deletion of exons 45-50 into an induced pluripotent stem cell line (CCMi005-A).
Stem Cell Res. 64:102889-102889(2022)

Cross-references
Cell line databases/resources hPSCreg; CCMi005-A
Encyclopedic resources Wikidata; Q110432689
Entry history
Entry creation16-Dec-2021
Last entry update19-Dec-2024
Version number7