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Cellosaurus PBD005 (CVCL_VQ71)

[Text version]
Cell line name PBD005
Accession CVCL_VQ71
Resource Identification Initiative To cite this cell line use: PBD005 (RRID:CVCL_VQ71)
Comments Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 9719; PEX5; Simple; p.Arg427Ter (c.1279C>T) (R390*); ClinVar=VCV000009144; Zygosity=Homozygous (PubMed=7719337).
Disease Peroxisome biogenesis disorder 2A (NCIt: C155750)
Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=7719337; DOI=10.1038/ng0295-115
Dodt G., Braverman N., Wong C., Moser A., Moser H.W., Watkins P., Valle D.L., Gould S.J.
Mutations in the PTS1 receptor gene, PXR1, define complementation group 2 of the peroxisome biogenesis disorders.
Nat. Genet. 9:115-125(1995)

PubMed=9668159; DOI=10.1093/hmg/7.8.1195
Braverman N., Dodt G., Gould S.J., Valle D.L.
An isoform of pex5p, the human PTS1 receptor, is required for the import of PTS2 proteins into peroxisomes.
Hum. Mol. Genet. 7:1195-1205(1998)

Cross-references
Encyclopedic resources Wikidata; Q98128485
Entry history
Entry creation13-Nov-2018
Last entry update29-Jun-2023
Version number7