Cellosaurus cell line CMDi001-A (CVCL

Cross-references
Cell line name	CMDi001-A
Synonyms	01016
Accession	CVCL_D0DG
Resource Identification Initiative	To cite this cell line use: CMDi001-A (RRID:CVCL_D0DG)
Comments	From: CureCMD; Lakewood; USA. From: Fujifilm Cellular Dynamics International, Inc.; Madison; USA. Population: Caucasian. Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations	Mutation; HGNC; HGNC:6636; LMNA; Simple; p.Leu35Pro (c.104T>C); ClinVar=VCV000066765; Zygosity=Unspecified (PubMed=30405424).
Disease	Dilated cardiomyopathy-1A (NCIt: C165596) Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (ORDO: Orphanet_300751)
Species of origin	Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell	Male
Age at sampling	15-19Y
Category	Induced pluripotent stem cell
Web pages	https://www.fujifilmcdi.com/mycell-cardiomyocytes-dcm-lmna-l35p-01016-gcmcl35p01016
Publications	PubMed=30405424; DOI=10.3389/fphys.2018.01332; PMCID=PMC6201196 Steele-Stallard H.B., Pinton L., Sarcar S., Ozdemir T., Maffioletti S.M., Zammit P.S., Tedesco F.S. Modeling skeletal muscle laminopathies using human induced pluripotent stem cells carrying pathogenic LMNA mutations. Front. Physiol. 9:1332.1-1332.19(2018)
Cell line databases/resources	hPSCreg; CMDi001-A
Biological sample resources	BioSamples; SAMEA112655517
Encyclopedic resources	Wikidata; Q123030943
Entry history
Entry creation	05-Oct-2023
Last entry update	19-Dec-2024
Version number	3