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Cellosaurus GM13395 (CVCL_JF49)

[Text version]
Cell line name GM13395
Synonyms WG2255; 2255
Accession CVCL_JF49
Resource Identification Initiative To cite this cell line use: GM13395 (RRID:CVCL_JF49)
Comments From: Montreal Children's Hospital cell repository; Montreal; Canada.
Population: Arab; Saudi Arabian.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Disease 5' 10' methylenetetrahydrofolate reductase deficiency (NCIt: C84524)
Homocystinuria due to methylene tetrahydrofolate reductase deficiency (ORDO: Orphanet_395)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 20Y
Category Finite cell line
Publications

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)

Cross-references
Cell line collections (Providers) Coriell; GM13395
Cell line databases/resources CLO; CLO_0012849
Biological sample resources BioSample; SAMN00802340
Encyclopedic resources Wikidata; Q54846505
Entry history
Entry creation15-May-2017
Last entry update19-Dec-2024
Version number9