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: 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 Joanne P., Hovhannisyan Y., Simon A., Revet G., Diot R., Friob G., Calin D., Li Z.-L., Behin A., Wahbi K., Tachdjian G., Agbulut O. 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	19-Dec-2024
Version number	2