Cellosaurus cell line INSRMi013-A (CVCL

Cross-references
Cell line name	INSRMi013-A
Synonyms	PC179c1
Accession	CVCL_C9E1
Resource Identification Initiative	To cite this cell line use: INSRMi013-A (RRID:CVCL_C9E1)
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.Ser46Tyr (c.137C>A); ClinVar=VCV000066405; Zygosity=Heterozygous (PubMed=38354647).
Disease	Myofibrillar myopathy 1 (NCIt: C206515) Desminopathy (ORDO: Orphanet_98909)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual	CVCL_C9E2 ! INSRMi013-B CVCL_C9E3 ! INSRMi013-C
Sex of cell	Male
Age at sampling	73Y
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; INSRMi013-A
Biological sample resources	BioSamples; SAMEA115045403
Encyclopedic resources	Wikidata; Q123032710
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	4