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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: Variations; SNP array analysis.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
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
Pierre Joanne, Yeranuhi Hovhannisyan, Alexandre Simon, Gaelle Revet, Romain Diot, Gabriel Friob, Denisa Calin, Zhen-Lin Li, Anthony Behin, Karim Wahbi, Gerard Tachdjian, Onnik Agbulut;
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-Apr-2025
Version number5