ID   WG1077
AC   CVCL_0E57
SY   WG 1077
DR   Wikidata; Q54993848
RX   CelloPub=CLPUB00409;
RX   CelloPub=CLPUB00453;
RX   PubMed=1437403;
RX   PubMed=2705457;
RX   PubMed=8900231;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; 8840; PEPD; Simple; p.Arg184Gln (c.551G>A); ClinVar=VCV000000211; Zygosity=Heterozygous (PubMed=8900231).
CC   Sequence variation: Mutation; HGNC; 8840; PEPD; Simple; p.Gly278Asp (c.833G>A); ClinVar=VCV000000212; Zygosity=Heterozygous (PubMed=8900231).
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   Male
AG   1Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 29-06-23; Version: 13
//
RX   CelloPub=CLPUB00409;
RA   Dolenga M.P.;
RT   "Metabolic studies of prolidase deficiency in cultured human
RT   fibroblasts.";
RL   Thesis MSc (1991); McGill University Montreal; Montreal; Canada.
//
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=1437403; DOI=10.1203/00006450-199210000-00020;
RA   Dolenga M.P., Hechtman P.;
RT   "Prolidase deficiency in cultured human fibroblasts: biochemical
RT   pathology and iminodipeptide-enhanced growth.";
RL   Pediatr. Res. 32:479-482(1992).
//
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=8900231; PMCID=PMC1914827;
RA   Ledoux P., Scriver C.R., Hechtman P.;
RT   "Expression and molecular analysis of mutations in prolidase
RT   deficiency.";
RL   Am. J. Hum. Genet. 59:1035-1039(1996).
//