| Cell line name |
WG1077 |
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| Synonyms |
WG 1077 |
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| Accession |
CVCL_0E57 |
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| Resource Identification Initiative |
To cite this cell line use: WG1077 (RRID:CVCL_0E57) |
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| 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. |
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| Sequence variations |
- Mutation; HGNC; 8840; PEPD; Simple; p.Arg184Gln (c.551G>A); ClinVar=VCV000000211; Zygosity=Heterozygous (PubMed=8900231).
- Mutation; HGNC; 8840; PEPD; Simple; p.Gly278Asp (c.833G>A); ClinVar=VCV000000212; Zygosity=Heterozygous (PubMed=8900231).
|
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| Disease |
Prolidase deficiency (NCIt: C85029)
Prolidase deficiency (ORDO: Orphanet_742) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Male |
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| Age at sampling |
1Y |
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| Category |
Finite cell line |
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| 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) CLPUB00409
Dolenga M.P.
Metabolic studies of prolidase deficiency in cultured human fibroblasts.
Thesis MSc (1991); McGill University Montreal; Montreal; Canada PubMed=1437403; DOI=10.1203/00006450-199210000-00020
Dolenga M.P., Hechtman P.
Prolidase deficiency in cultured human fibroblasts: biochemical pathology and iminodipeptide-enhanced growth.
Pediatr. Res. 32:479-482(1992) PubMed=8900231; PMCID=PMC1914827
Ledoux P., Scriver C.R., Hechtman P.
Expression and molecular analysis of mutations in prolidase deficiency.
Am. J. Hum. Genet. 59:1035-1039(1996) |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q54993848
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| Entry history |
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| Entry creation | 10-Apr-2015 |
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| Last entry update | 29-Jun-2023 |
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| Version number | 13 |
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