Cellosaurus cell line INSRMi021-A (CVCL

Cross-references
Cell line name	INSRMi021-A
Synonyms	PC177 3c14
Accession	CVCL_D6P5
Resource Identification Initiative	To cite this cell line use: INSRMi021-A (RRID:CVCL_D6P5)
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.Glu245Asp (c.735G>C); ClinVar=VCV000066420; 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	Female
Age at sampling	57Y
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; INSRMi021-A
Biological sample resources	BioSamples; SAMEA115046807
Entry history
Entry creation	10-Sep-2024
Last entry update	19-Dec-2024
Version number	2