| Cell line name |
WG0354 |
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| Synonyms |
WG 354; 354 |
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| Accession |
CVCL_B3VN |
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| Resource Identification Initiative |
To cite this cell line use: WG0354 (RRID:CVCL_B3VN) |
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| Comments |
From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: African American.
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; HGNC:7436; MTHFR; Simple; c.780+1G>A (c.792+1G>A); Zygosity=Heterozygous; Note=Splice donor mutation (PubMed=7726158; PubMed=8940272).
|
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| Disease |
5' 10' methylenetetrahydrofolate reductase deficiency (NCIt: C84524)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (ORDO: Orphanet_395) |
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| Species of origin |
Homo sapiens (Human)
(NCBI Taxonomy: 9606) |
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| Sex of cell |
Female |
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| Category |
Finite cell line |
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| Publications | PubMed=1627352; DOI=10.1016/0885-4505(92)90029-x
David S. Rosenblatt, Helena Lue-Shing, A. Arzoumanian, Lawrence Low-Nang, Nora V. Matiaszuk;
Methylenetetrahydrofolate reductase (MR) deficiency: thermolability of residual MR activity, methionine synthase activity, and methylcobalamin levels in cultured fibroblasts.
Biochem. Med. Metab. Biol. 47:221-225(1992) PubMed=7726158; PMCID=PMC1801446
Philippe Goyette, Phyllis Frosst, David S. Rosenblatt, Rima Rozen;
Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.
Am. J. Hum. Genet. 56:1052-1059(1995) PubMed=8940272; PMCID=PMC1914869
Philippe Goyette, Benedicte Christensen, David S. Rosenblatt, Rima Rozen;
Severe and mild mutations in cis for the methylenetetrahydrofolate reductase (MTHFR) gene, and description of five novel mutations in MTHFR.
Am. J. Hum. Genet. 59:1268-1275(1996) Patent=US6528259
Rima Rozen, Philippe Goyette;
Methods for detecting human methylenetetrahydrofolate reductase allelic variants.
Patent number US6528259, 04-Mar-2003 |
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| Cross-references |
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| Encyclopedic resources |
Wikidata; Q110433999
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| Entry history |
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| Entry creation | 16-Dec-2021 |
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| Last entry update | 19-Dec-2024 |
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| Version number | 5 |
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