Cellosaurus logo
expasy logo

Cellosaurus GM16513 (CVCL_4F73)

[Text version]
Cell line name GM16513
Accession CVCL_4F73
Resource Identification Initiative To cite this cell line use: GM16513 (RRID:CVCL_4F73)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8850; PEX1; Simple; p.Ile700Tyrfs*42 (c.2097dupT); ClinVar=VCV000007519; Zygosity=Heterozygous (Coriell=GM16513).
Disease Peroxisome biogenesis disorder 1A (NCIt: C155748)
Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 5M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM16513
Cell line databases/resources CLO; CLO_0017490
Encyclopedic resources Wikidata; Q54848616
Entry history
Entry creation22-Sep-2015
Last entry update19-Dec-2024
Version number13