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Cellosaurus UMCUi002-A (CVCL_D6JT)

[Text version]
Cell line name UMCUi002-A
Synonyms CRYAB-A527G-12C6
Accession CVCL_D6JT
Resource Identification Initiative To cite this cell line use: UMCUi002-A (RRID:CVCL_D6JT)
Comments From: Departement of Heart and Lungs, University Medical Center Utrecht; Utrecht; Netherlands.
Population: Caucasian.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; 2389; CRYAB; Simple; p.Ter176Ter (c.527G>A); Zygosity=Heterozygous (hPSCreg=UMCUi002-A).
Disease Familial isolated dilated cardiomyopathy (ORDO: Orphanet_154)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; UMCUi002-A
Biological sample resources BioSamples; SAMEA114569690
Entry history
Entry creation02-May-2024
Last entry update02-May-2024
Version number1