Cellosaurus cell line INSRMi020-A (CVCL

Cross-references
Cell line name	INSRMi020-A
Synonyms	PC130K2c
Accession	CVCL_D6P4
Resource Identification Initiative	To cite this cell line use: INSRMi020-A (RRID:CVCL_D6P4)
Comments	From: INSERM; Paris; France. Omics: Variations; SNP array analysis. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:2770; DES; Simple; p.Glu439Lys (c.1315G>A); ClinVar=VCV000265838; Zygosity=Heterozygous (PubMed=38354647).
Disease	Myofibrillar myopathy 1 (NCIt: C206515) Desminopathy (ORDO: Orphanet_98909)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	56Y
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)
Cell line databases/resources	hPSCreg; INSRMi020-A
Biological sample resources	BioSamples; SAMEA115046805
Entry history
Entry creation	10-Sep-2024
Last entry update	10-Apr-2025
Version number	3