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Cellosaurus CMDi001-A (CVCL_D0DG)

[Text version]
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; 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)

Cross-references
Cell line databases/resources hPSCreg; CMDi001-A
Biological sample resources BioSamples; SAMEA112655517
Encyclopedic resources Wikidata; Q123030943
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2