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Cellosaurus GM28550 (CVCL_D6XT)

[Text version]
Cell line name GM28550
Accession CVCL_D6XT
Resource Identification Initiative To cite this cell line use: GM28550 (RRID:CVCL_D6XT)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11100; SMARCA4; Simple; c.3951+2T>C; ClinVar=VCV000537819; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28550).
  • Mutation; HGNC; HGNC:24931; ZC4H2; Simple; p.Glu42Ter (c.124G>T); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28550).
Disease Female-restricted Wieacker-Wolff syndrome (NCIt: C198578)
Wieacker-Wolff syndrome (ORDO: Orphanet_3454)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Originate from same individual CVCL_D6XU ! GM28551
Sex of cell Female
Age at sampling 5Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28550
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2