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Cellosaurus INNDSUi003-A (CVCL_C0JB)

[Text version]
Cell line name INNDSUi003-A
Accession CVCL_C0JB
Resource Identification Initiative To cite this cell line use: INNDSUi003-A (RRID:CVCL_C0JB)
Comments From: Institute of Neuromuscular and Neurodegenerative Diseases, Shandong University; Jinan; China.
Population: Chinese; Han.
Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 2928; DMD; Simple; c.1483-2A>G; ClinVar=VCV001322654; Zygosity=Hemizygous; Note=Splice acceptor mutation (PubMed=35526387).
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 32Y
Category Induced pluripotent stem cell
Publications

PubMed=35526387; DOI=10.1016/j.scr.2022.102794
Ji X.-B., Wang Y., Sun P., Wang D.-D., Sun X.-H., Zhang R., Xu J.-W., Li W., Liu F.-C., Yan C.-Z.
Generation of a human induced pluripotent stem cell line (INNDSUi003-A) derived from patient with Becker muscular dystrophy (BMD).
Stem Cell Res. 62:102794-102794(2022)

Cross-references
Cell line databases/resources hPSCreg; INNDSUi003-A
Biological sample resources BioSamples; SAMEA13935789
Encyclopedic resources Wikidata; Q112929867
Entry history
Entry creation23-Jun-2022
Last entry update29-Jun-2023
Version number4