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Cellosaurus WG1625 (CVCL_0E64)

[Text version]
Cell line name WG1625
Synonyms WG 1625
Accession CVCL_0E64
Resource Identification Initiative To cite this cell line use: WG1625 (RRID:CVCL_0E64)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Miscellaneous: Cell line no longer available.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; 8840; PEPD; Unexplicit; IVS6-2A>G (Ex7del); Zygosity=Homozygous; Note=Splice acceptor mutation (PubMed=8198124).
Disease Prolidase deficiency (NCIt: C85029)
Prolidase deficiency (ORDO: Orphanet_742)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 27Y
Category Finite cell line
Publications

CLPUB00409
Dolenga M.P.
Metabolic studies of prolidase deficiency in cultured human fibroblasts.
Thesis MSc (1991); McGill University Montreal; Montreal; Canada

PubMed=1437403; DOI=10.1203/00006450-199210000-00020
Dolenga M.P., Hechtman P.
Prolidase deficiency in cultured human fibroblasts: biochemical pathology and iminodipeptide-enhanced growth.
Pediatr. Res. 32:479-482(1992)

PubMed=8198124; PMCID=PMC1918181
Ledoux P., Scriver C.R., Hechtman P.
Four novel PEPD alleles causing prolidase deficiency.
Am. J. Hum. Genet. 54:1014-1021(1994)

Cross-references
Encyclopedic resources Wikidata; Q54993905
Entry history
Entry creation10-Apr-2015
Last entry update29-Jun-2023
Version number13