ID   WG1194
AC   CVCL_UH78
SY   WG 1194
DR   Wikidata; Q98134892
RX   CelloPub=CLPUB00453;
RX   PubMed=2705457;
RX   PubMed=8198124;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; 8840; PEPD; Simple; p.Gly448Arg (c.1342G>A); ClinVar=VCV000000213; Zygosity=Homozygous (PubMed=8198124).
CC   Miscellaneous: Cell line no longer available.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C85029; Prolidase deficiency
DI   ORDO; Orphanet_742; Prolidase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Age unspecified
CA   Finite cell line
DT   Created: 25-02-19; Last updated: 29-06-23; Version: 9
//
RX   CelloPub=CLPUB00453;
RA   Boright A.P.;
RT   "Prolidase deficiency: studies in human dermal fibroblasts.";
RL   Thesis PhD (1988); McGill University Montreal; Montreal; Canada.
//
RX   PubMed=2705457; PMCID=PMC1715628;
RA   Boright A.P., Scriver C.R., Lancaster G.A., Choy F.Y.-M.;
RT   "Prolidase deficiency: biochemical classification of alleles.";
RL   Am. J. Hum. Genet. 44:731-740(1989).
//
RX   PubMed=8198124; PMCID=PMC1918181;
RA   Ledoux P., Scriver C.R., Hechtman P.;
RT   "Four novel PEPD alleles causing prolidase deficiency.";
RL   Am. J. Hum. Genet. 54:1014-1021(1994).
//