Cellosaurus cell line PBD018 (CVCL

Cross-references
Cell line name	PBD018
Accession	CVCL_VQ73
Resource Identification Initiative	To cite this cell line use: PBD018 (RRID:CVCL_VQ73)
Comments	Derived from site: In situ; Skin; UBERON=UBERON_0002097. Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations	Mutation; HGNC; HGNC:9719; PEX5; Simple; p.Asn526Lys (c.1578T>G) (N489K); ClinVar=VCV000009143; Zygosity=Homozygous (PubMed=7719337).
Disease	Peroxisome biogenesis disorder 2B (NCIt: C155751) 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)
Encyclopedic resources	Wikidata; Q98128487
Entry history
Entry creation	13-Nov-2018
Last entry update	19-Dec-2024
Version number	8