ID   WG1625
AC   CVCL_0E64
SY   WG 1625
DR   Wikidata; Q54993905
RX   CelloPub=CLPUB00409;
RX   PubMed=1437403;
RX   PubMed=8198124;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:8840; PEPD; Unexplicit; IVS6-2A>G (Ex7del); Zygosity=Homozygous; Note=Splice acceptor mutation (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   27Y
CA   Finite cell line
DT   Created: 10-04-15; Last updated: 19-12-24; Version: 14
//
RX   PubMed=8198124; PMCID=PMC1918181;
RA   Ledoux, Pierre
RA   Scriver, Charles Robert
RA   Hechtman, Peter
RT   "Four novel PEPD alleles causing prolidase deficiency.";
RL   Am. J. Hum. Genet. 54:1014-1021(1994).
//
RX   PubMed=1437403; DOI=10.1203/00006450-199210000-00020;
RA   Dolenga, Michael Peter
RA   Hechtman, Peter
RT   "Prolidase deficiency in cultured human fibroblasts: biochemical
RT   pathology and iminodipeptide-enhanced growth.";
RL   Pediatr. Res. 32:479-482(1992).
//
RX   CelloPub=CLPUB00409;
RA   Dolenga, Michael Peter
RT   "Metabolic studies of prolidase deficiency in cultured human
RT   fibroblasts.";
RL   Thesis MSc (1991); McGill University Montreal; Montreal; Canada.
//