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Cellosaurus SCVIi088-A (CVCL_D0L8)

[Text version]
Cell line name SCVIi088-A
Synonyms SCVIi-088A
Accession CVCL_D0L8
Resource Identification Initiative To cite this cell line use: SCVIi088-A (RRID:CVCL_D0L8)
Comments From: Stanford Cardiovascular Institute; Palo Alto; USA.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2928; DMD; Simple; p.Arg3391Ter (c.10171C>T); ClinVar=VCV000094428; Zygosity=Hemizygous (PubMed=37740996).
Disease Duchenne muscular dystrophy (NCIt: C75482)
Duchenne muscular dystrophy (ORDO: Orphanet_98896)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 9Y
Category Induced pluripotent stem cell
Publications

PubMed=37740996; DOI=10.1016/j.scr.2023.103207; PMCID=PMC10949967
Liu W.-Q., Zeng W.-S., Kong X.-H., Htet M.H., Yu R., Wheeler M.T., Day J.W., Wu J.C.
Generation of two induced pluripotent stem cell lines from Duchenne muscular dystrophy patients.
Stem Cell Res. 72:103207-103207(2023)

Cross-references
Cell line databases/resources hPSCreg; SCVIi088-A
Biological sample resources BioSamples; SAMEA114260508
Encyclopedic resources Wikidata; Q123033430
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2