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Cellosaurus GM29367 (CVCL_F0Z3)

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Cell line name GM29367
Accession CVCL_F0Z3
Resource Identification Initiative To cite this cell line use: GM29367 (RRID:CVCL_F0Z3)
Comments Population: Caucasian; English/Italian/Lithuanian/Norwegian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:11233; SPAST; Simple; c.1413+1G>A; ClinVar=VCV000805511; Zygosity=Heterozygous; Note=Splice donor mutation (Coriell=GM29367).
Disease Spastic paraplegia 4 (NCIt: C129981)
Autosomal dominant spastic paraplegia type 4 (ORDO: Orphanet_100985)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 6Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM29367
Entry history
Entry creation27-Nov-2025
Last entry update27-Nov-2025
Version number1