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Cellosaurus INSRMi019-A (CVCL_D6P3)

[Text version]
Cell line name INSRMi019-A
Synonyms PC129K8
Accession CVCL_D6P3
Resource Identification Initiative To cite this cell line use: INSRMi019-A (RRID:CVCL_D6P3)
Comments From: INSERM; Paris; France.
Omics: SNP array analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2770; DES; Simple; p.Pro419His; Zygosity=Heterozygous (PubMed=38354647).
Disease Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 70Y
Category Induced pluripotent stem cell
Publications

PubMed=38354647; DOI=10.1016/j.scr.2024.103338
Joanne P., Hovhannisyan Y., Simon A., Revet G., Diot R., Friob G., Calin D., Li Z.-L., Behin A., Wahbi K., Tachdjian G., Agbulut O.
Generation of human induced pluripotent stem cell lines from five patients with myofibrillar myopathy carrying different heterozygous mutations in the DES gene.
Stem Cell Res. 76:103338-103338(2024)

Cross-references
Cell line databases/resources hPSCreg; INSRMi019-A
Biological sample resources BioSamples; SAMEA115056948
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2