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Cellosaurus GM28311 (CVCL_C0LP)

[Text version]
Cell line name GM28311
Accession CVCL_C0LP
Resource Identification Initiative To cite this cell line use: GM28311 (RRID:CVCL_C0LP)
Comments Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Leu573Phe (c.1719A>T); ClinVar=VCV000811288; Zygosity=Heterozygous (Coriell=GM28311).
  • Mutation; HGNC; HGNC:2548; CUBN; Simple; p.Glu3077Lys (c.9229G>A); Zygosity=Heterozygous (Coriell=GM28311).
  • Mutation; HGNC; HGNC:19440; SBDS; Simple; p.Asn14Ser (c.41A>G); ClinVar=VCV000427147; Zygosity=Heterozygous (Coriell=GM28311).
  • Mutation; HGNC; HGNC:19440; SBDS; Simple; c.258+2T>C (IVS2+2T>C); ClinVar=VCV000003196; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28311).
Disease Shwachman-Diamond syndrome (NCIt: C61235)
Shwachman-Diamond syndrome (ORDO: Orphanet_811)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 7Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28311
Encyclopedic resources Wikidata; Q112929599
Entry history
Entry creation23-Jun-2022
Last entry update19-Dec-2024
Version number6