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Cellosaurus ITXi006-A-1 (CVCL_E8YB)

[Text version]
Cell line name ITXi006-A-1
Synonyms IM-R406W
Accession CVCL_E8YB
Resource Identification Initiative To cite this cell line use: ITXi006-A-1 (RRID:CVCL_E8YB)
Comments From: Institut du Thorax; Nantes; France.
Population: Caucasian; French.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2770; DES; Simple_edited; p.Arg406Trp (c.1216C>T); ClinVar=VCV000016826; Zygosity=Heterozygous; Note=By CRISP/Cas9 (PubMed=38522388).
Disease Myofibrillar myopathy 1 (NCIt: C206515)
Desminopathy (ORDO: Orphanet_98909)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Parent: CVCL_B5Q5 (ITXi006-A)
Sex of cell Male
Age at sampling 55Y
Category Induced pluripotent stem cell
Publications

PubMed=38522388; DOI=10.1016/j.scr.2024.103396
Michelle Geryk, Robin Canac, Virginie Forest, Pierre Lindenbaum, Aurore Girardeau, Manon Baudic, Estelle Baron, Anne Bibonne, Caroline Chariau, Florence Kyndt, Richard Redon ...Show all 15 authors... , Jean-Jacques Schott, Jean-Baptiste Gourraud, Julien Barc, Flavien Charpentier; Show fewer authors
Generation of a patient-specific induced pluripotent stem cell line carrying the DES p.R406W mutation, an isogenic control and a DES p.R406W knock-in line.
Stem Cell Res. 77:103396-103396(2024)

Cross-references
Cell line databases/resources hPSCreg; ITXi006-A-1
Biological sample resources BioSamples; SAMEA115121928
Entry history
Entry creation14-Aug-2025
Last entry update14-Aug-2025
Version number1