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Cellosaurus FJMAi001-A (CVCL_E3WY)

[Text version]
Cell line name FJMAi001-A
Accession CVCL_E3WY
Resource Identification Initiative To cite this cell line use: FJMAi001-A (RRID:CVCL_E3WY)
Comments From: Fujian Academy of Medical Sciences; Fuzhou; China.
Population: Chinese; Han.
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Cys926Tyr (c.2777G>A); ClinVar=VCV000527216; Zygosity=Heterozygous (hPSCreg=FJMAi001-A).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 57Y
Category Induced pluripotent stem cell
Cross-references
Cell line databases/resources hPSCreg; FJMAi001-A
Biological sample resources BioSamples; SAMEA115597159
Entry history
Entry creation19-Dec-2024
Last entry update19-Dec-2024
Version number1