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Cellosaurus GM28531 (CVCL_D6XS)

[Text version]
Cell line name GM28531
Accession CVCL_D6XS
Resource Identification Initiative To cite this cell line use: GM28531 (RRID:CVCL_D6XS)
Comments Population: Jewish; Ashkenazi.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11752; TFE3; Simple; p.Val114Asp (c.341T>A); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM28531).
Disease X-linked syndromic intellectual developmental disorder with pigmentary mosaicism and coarse facies (NCIt: C206529)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 1Y6M
Category Induced pluripotent stem cell
Cross-references
Cell line collections (Providers) Coriell; GM28531
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2