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Cellosaurus GM29788 (CVCL_F0YJ)

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Cell line name GM29788
Accession CVCL_F0YJ
Resource Identification Initiative To cite this cell line use: GM29788 (RRID:CVCL_F0YJ)
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:19082; NALCN; Simple; p.Asp600His (c.1798G>C); Zygosity=Heterozygous (Coriell=GM29788).
Disease CLIFAHDD syndrome (NCIt: C222353)
Congenital limbs-face contractures-hypotonia-developmental delay syndrome (ORDO: Orphanet_562528)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Hierarchy Children:
CVCL_F0YI (GM29787)
Sex of cell Female
Age at sampling 10M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29788
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1