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Cellosaurus INSRMi013-C (CVCL_C9E3)

[Text version]
Cell line name INSRMi013-C
Synonyms PC179c5
Accession CVCL_C9E3
Resource Identification Initiative To cite this cell line use: INSRMi013-C (RRID:CVCL_C9E3)
Comments From: INSERM; Paris; France.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2770; DES; Simple; p.Ser46Tyr (c.137C>A); ClinVar=VCV000066405; Zygosity=Heterozygous (from autologous cell line INSRMi013-A).
Disease Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C9E1 ! INSRMi013-A
CVCL_C9E2 ! INSRMi013-B
Sex of cell Male
Age at sampling 73Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; INSRMi013-C
Encyclopedic resources Wikidata; Q123032712
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4