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Cellosaurus CCMi004-A (CVCL_YB96)

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Cell line name CCMi004-A
Synonyms BMD3 c.13; BMD3 C13
Accession CVCL_YB96
Resource Identification Initiative To cite this cell line use: CCMi004-A (RRID:CVCL_YB96)
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; Simple; c.1705-8T>C; Zygosity=Hemizygous; Note=Splicing mutation (PubMed=32348941).
Disease Becker's muscular dystrophy (NCIt: C84587)
Becker muscular dystrophy (ORDO: Orphanet_98895)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5Y
Category Induced pluripotent stem cell
Publications

PubMed=32348941; DOI=10.1016/j.scr.2020.101819; PMCID=PMC7264707
Davide Rovina, Elisa Castiglioni, Francesco Niro, Andrea Farini, Marzia Belicchi, Elisabetta Di Fede, Cristina Gervasini, Stefania Paganini, Marina Di Segni, Yvan Torrente, Rosaria Santoro ...Show all 13 authors... , Giulio Pompilio, Aoife Gowran; Show fewer authors
Generation of the Becker muscular dystrophy patient derived induced pluripotent stem cell line carrying the DMD splicing mutation c.1705-8T>C.
Stem Cell Res. 45:101819-101819(2020)

Cross-references
Cell line databases/resources hPSCreg; CCMi004-A
Encyclopedic resources Wikidata; Q93445533
Entry history
Entry creation19-Dec-2019
Last entry update19-Dec-2024
Version number9