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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
Goyette P., Christensen B., Rosenblatt D.S., Rozen R.
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