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Cellosaurus CMDi002-A (CVCL_D0DH)

[Text version]
Cell line name CMDi002-A
Synonyms 01173
Accession CVCL_D0DH
Resource Identification Initiative To cite this cell line use: CMDi002-A (RRID:CVCL_D0DH)
Comments From: CureCMD; Lakewood; USA.
From: Fujifilm Cellular Dynamics International, Inc.; Madison; USA.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 6636; LMNA; Simple; p.Lys32del (c.94_96delAAG); ClinVar=VCV000066960; Zygosity=Unspecified (PubMed=30405424).
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 65-69Y
Category Induced pluripotent stem cell
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; CMDi002-A
Biological sample resources BioSamples; SAMEA112655519
Encyclopedic resources Wikidata; Q123030944
Entry history
Entry creation05-Oct-2023
Last entry update30-Jan-2024
Version number2