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Cellosaurus GM21498 (CVCL_HK06)

[Text version]
Cell line name GM21498
Accession CVCL_HK06
Resource Identification Initiative To cite this cell line use: GM21498 (RRID:CVCL_HK06)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:3603; FBN1; Simple; p.Asn28Ser (c.83A>G); ClinVar=VCV000036130; Zygosity=Heterozygous (Coriell=GM21498).
Disease Marfan syndrome (NCIt: C34807)
Marfan syndrome (ORDO: Orphanet_558)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_HK07 ! GM21499
Sex of cell Male
Age at sampling 47Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM21498
Encyclopedic resources Wikidata; Q54851945
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number11