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Cellosaurus GM28551 (CVCL_D6XU)

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Cell line name GM28551
Accession CVCL_D6XU
Resource Identification Initiative To cite this cell line use: GM28551 (RRID:CVCL_D6XU)
Comments Population: Caucasian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11100; SMARCA4; Simple; c.3951+2T>C; ClinVar=VCV000537819; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM28551).
  • Mutation; HGNC; HGNC:24931; ZC4H2; Simple; p.Glu42Ter (c.124G>T); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28551).
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_D6XT ! GM28550
Sex of cell Female
Age at sampling 5Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28551
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2