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Cellosaurus DMBi006-A-1 (CVCL_C7FY)

[Text version]
Cell line name DMBi006-A-1
Accession CVCL_C7FY
Resource Identification Initiative To cite this cell line use: DMBi006-A-1 (RRID:CVCL_C7FY)
Comments From: Department of Medical Biotechnology, Jagiellonian University; Krakow; Poland.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2928; DMD; Unexplicit_edited; Ex50del; Zygosity=Hemizygous; Note=By CRISPR/Cas9 (PubMed=36565681).
  • Mutation; HGNC; 5013; HMOX1; Unexplicit; (GT)>=29 promoter repeat; ClinVar=VCV000015897; Zygosity=Homozygous (PubMed=36565681).
Disease Duchenne muscular dystrophy (NCIt: C75482)
Duchenne muscular dystrophy (ORDO: Orphanet_98896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_C7FX (DMBi006-A)
Sex of cell Male
Age at sampling 33Y
Category Induced pluripotent stem cell
Publications

PubMed=36565681; DOI=10.1016/j.scr.2022.103004
Polak K., Stepniewski J., Sciezynska A., Podgorska A., Dulak J., Florczyk-Soluch U.
Generation of human induced pluripotent stem cell lines with HMOX1 promoter polymorphism and CRISPR/Cas9-mediated deletion of exon 50 of DMD gene.
Stem Cell Res. 66:103004-103004(2023)

Cross-references
Cell line databases/resources hPSCreg; DMBi006-A-1
Encyclopedic resources Wikidata; Q117704291
Entry history
Entry creation21-Mar-2023
Last entry update29-Jun-2023
Version number2