Cellosaurus cell line WG1194 (CVCL

Cross-references
Cell line name	WG1194
Synonyms	WG 1194
Accession	CVCL_UH78
Resource Identification Initiative	To cite this cell line use: WG1194 (RRID:CVCL_UH78)
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; HGNC:8840; PEPD; Simple; p.Gly448Arg (c.1342G>A); ClinVar=VCV000000213; Zygosity=Homozygous (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	Age unspecified
Category	Finite cell line
Publications	CLPUB00453 Andrew Pepler Boright; Prolidase deficiency: studies in human dermal fibroblasts. Thesis PhD (1988); McGill University Montreal; Montreal; Canada PubMed=2705457; PMCID=PMC1715628 Andrew Pepler Boright, Charles Robert Scriver, Gerald A. Lancaster, Francis Y.-M. Choy; Prolidase deficiency: biochemical classification of alleles. Am. J. Hum. Genet. 44:731-740(1989) PubMed=8198124; PMCID=PMC1918181 Pierre Ledoux, Charles Robert Scriver, Peter Hechtman; Four novel PEPD alleles causing prolidase deficiency. Am. J. Hum. Genet. 54:1014-1021(1994)
Encyclopedic resources	Wikidata; Q98134892
Entry history
Entry creation	25-Feb-2019
Last entry update	19-Dec-2024
Version number	10