Cellosaurus logo
expasy logo

Cellosaurus PBD009 (CVCL_VQ72)

[Text version]
Cell line name PBD009
Accession CVCL_VQ72
Resource Identification Initiative To cite this cell line use: PBD009 (RRID:CVCL_VQ72)
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.Gly843Asp (c.2528G>4); Zygosity=Heterozygous (PubMed=9398847).
  • Mutation; HGNC; HGNC:8850; PEX1; Simple; c.2926+1G>A; ClinVar=VCV000188729; Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=9398847).
Disease Peroxisome biogenesis disorder 1A (NCIt: C155748)
Peroxisome biogenesis disorder (ORDO: Orphanet_79189)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Category Finite cell line
Publications

PubMed=9398847; DOI=10.1038/ng1297-445
Reuber B.E., Germain-Lee E.L., Collins C.S., Morrell J.C., Ameritunga R., Moser H.W., Valle D.L., Gould S.J.
Mutations in PEX1 are the most common cause of peroxisome biogenesis disorders.
Nat. Genet. 17:445-448(1997)

Cross-references
Encyclopedic resources Wikidata; Q98128486
Entry history
Entry creation13-Nov-2018
Last entry update19-Dec-2024
Version number9