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Cellosaurus GM28977 (CVCL_D2ZY)

[Text version]
Cell line name GM28977
Accession CVCL_D2ZY
Resource Identification Initiative To cite this cell line use: GM28977 (RRID:CVCL_D2ZY)
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:11233; SPAST; Simple; p.Arg499His (c.1496G>A); ClinVar=VCV000240950; Zygosity=Heterozygous (Coriell=GM28977).
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 3Y
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM28977
Encyclopedic resources Wikidata; Q127380946
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3