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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; Milano; Italy.
Derived from sampling site: Skin; dermis.
Sequence variations Mutation; 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

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Publications

PubMed=29414413; DOI=10.1016/j.scr.2018.01.025
Gowran A., Spaltro G., Casalnuovo F., Vigorelli V., Spinelli P., Castiglioni E., Rovina D., Paganini S., Di Segni M., Gervasini C., Nigro P., Pompilio G.
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
Other Wikidata; Q54808984
Entry history
Entry creation05-Mar-2018
Last entry update20-May-2021
Version number5