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Cellosaurus PBD097 (CVCL_VQ74)

[Text version]
Cell line name PBD097
Accession CVCL_VQ74
Resource Identification Initiative To cite this cell line use: PBD097 (RRID:CVCL_VQ74)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:8854; PEX12; Simple; p.Leu245Cysfs*19 (c.730_733dupGCCT) (c.733_734insGCCT); ClinVar=VCV000371737; Zygosity=Heterozygous (PubMed=9090384).
  • Mutation; HGNC; HGNC:8854; PEX12; Simple; p.Thr249Tyrfs*14 (c.744dupT) (c.744_745insT); ClinVar=VCV000553741; Zygosity=Heterozygous (PubMed=9090384).
Disease Peroxisome biogenesis disorder 3A (NCIt: C155752)
Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=9090384; DOI=10.1038/ng0497-385
Chang C.-C., Lee W.-H., Moser H.W., Valle D.L., Gould S.J.
Isolation of the human PEX12 gene, mutated in group 3 of the peroxisome biogenesis disorders.
Nat. Genet. 15:385-388(1997)

Cross-references
Encyclopedic resources Wikidata; Q98128488
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number10