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Cellosaurus WG1343 (CVCL_UH80)

[Text version]
Cell line name WG1343
Synonyms WG 1343
Accession CVCL_UH80
Resource Identification Initiative To cite this cell line use: WG1343 (RRID:CVCL_UH80)
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; Simple; p.Gly448Arg (c.1342G>A); ClinVar=VCV000000213; Zygosity=Heterozygous (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 4Y
Category Finite cell line
Publications

CLPUB00453
Boright A.P.
Prolidase deficiency: studies in human dermal fibroblasts.
Thesis PhD (1988); McGill University Montreal; Montreal; Canada

PubMed=2705457; PMCID=PMC1715628
Boright A.P., Scriver C.R., Lancaster G.A., Choy F.Y.-M.
Prolidase deficiency: biochemical classification of alleles.
Am. J. Hum. Genet. 44:731-740(1989)

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; Q98134896
Entry history
Entry creation25-Feb-2019
Last entry update29-Jun-2023
Version number9