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Cellosaurus CCMi004-A (CVCL_YB96)

[Text version]

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; Milano; Italy.
Population: Caucasian.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; 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
Rovina D., Castiglioni E., Niro F., Farini A., Belicchi M., Di Fede E., Gervasini C., Paganini S., Di Segni M., Torrente Y., Santoro R., Pompilio G., Gowran A.
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 update20-May-2021
Version number4