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Cellosaurus INSRMi013-A (CVCL_C9E1)

[Text version]
Cell line name INSRMi013-A
Synonyms PC179c1
Accession CVCL_C9E1
Resource Identification Initiative To cite this cell line use: INSRMi013-A (RRID:CVCL_C9E1)
Comments From: INSERM; Paris; France.
Omics: SNP array analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2770; DES; Simple; p.Ser46Tyr (c.137C>A); ClinVar=VCV000066405; Zygosity=Heterozygous (PubMed=38354647).
Disease Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C9E2 ! INSRMi013-B
CVCL_C9E3 ! INSRMi013-C
Sex of cell Male
Age at sampling 73Y
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; INSRMi013-A
Biological sample resources BioSamples; SAMEA115045403
Encyclopedic resources Wikidata; Q123032710
Entry history
Entry creation05-Oct-2023
Last entry update10-Sep-2024
Version number3