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Cellosaurus GM29259 (CVCL_D6WX)

[Text version]
Cell line name GM29259
Accession CVCL_D6WX
Resource Identification Initiative To cite this cell line use: GM29259 (RRID:CVCL_D6WX)
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:8514; CLDN11; Simple; p.Gly172fs (c.515del); Zygosity=Heterozygous; Note=De novo mutation (Coriell=GM29259).
Disease Hypomyelinating leukodystrophy-22 (NCIt: C201587)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 2Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29259
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2