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Cellosaurus CCMi002-A (CVCL_RV17)

[Text version]
Cell line name CCMi002-A
Synonyms CCMi002BMD-A-9; CCMi002BMD-A-9 delta45-55; BMD1 c.9; BMD1
Accession CVCL_RV17
Resource Identification Initiative To cite this cell line use: CCMi002-A (RRID:CVCL_RV17)
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; Ex45-55del; Zygosity=Hemizygous (PubMed=29414413).
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 26Y
Category Induced pluripotent stem cell
STR profile Source(s): PubMed=29414413

Markers:
AmelogeninX,Y
CSF1PO12
D2S133823,25
D3S135815,16
D5S81810,13
D7S8208,9
D8S117914
D13S3178,11
D16S53912
D18S5112,14
D19S43315,15.2
D21S1130.2,31.2
FGA24,26
Penta D8,10
Penta E5,11
TH019,9.3
TPOX8
vWA15

Run an STR similarity search on this cell line
Publications

PubMed=29414413; DOI=10.1016/j.scr.2018.01.025
Aoife Gowran, Gabriella Spaltro, Federica Casalnuovo, Vera Vigorelli, Pietro Spinelli, Elisa Castiglioni, Davide Rovina, Stefania Paganini, Marina Di Segni, Cristina Gervasini, Patrizia Nigro, Giulio Pompilio;
Generation of induced pluripotent stem cells from a Becker muscular dystrophy patient carrying a deletion of exons 45-55 of the dystrophin gene (CCMi002BMD-A-9 delta45-55).
Stem Cell Res. 28:21-24(2018)

Cross-references
Cell line databases/resources hPSCreg; CCMi002-A
Encyclopedic resources Wikidata; Q54808984
Entry history
Entry creation05-Mar-2018
Last entry update19-Dec-2024
Version number11