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Cellosaurus INSRMi012-B (CVCL_C9DZ)

[Text version]
Cell line name INSRMi012-B
Synonyms PC173c6
Accession CVCL_C9DZ
Resource Identification Initiative To cite this cell line use: INSRMi012-B (RRID:CVCL_C9DZ)
Comments From: INSERM; Paris; France.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2770; DES; Simple; p.Asp214_Glu245del (c.735+3A>G); ClinVar=VCV000066419; Zygosity=Heterozygous (from autologous cell line INSRMi012-C).
Disease Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_C9DY ! INSRMi012-A
CVCL_C9E0 ! INSRMi012-C
Sex of cell Male
Age at sampling 35Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; INSRMi012-B
Encyclopedic resources Wikidata; Q123032708
Entry history
Entry creation05-Oct-2023
Last entry update19-Dec-2024
Version number4