ID   GM13395
AC   CVCL_JF49
SY   WG2255; 2255
DR   CLO; CLO_0012849
DR   BioSample; SAMN00802340
DR   Coriell; GM13395
DR   Wikidata; Q54846505
RX   PubMed=8940272;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Arab; Saudi Arabian.
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84524; 5' 10' methylenetetrahydrofolate reductase deficiency
DI   ORDO; Orphanet_395; Homocystinuria due to methylene tetrahydrofolate reductase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   20Y
CA   Finite cell line
DT   Created: 15-05-17; Last updated: 19-12-24; Version: 9
//
RX   PubMed=8940272; PMCID=PMC1914869;
RA   Goyette P., Christensen B., Rosenblatt D.S., Rozen R.;
RT   "Severe and mild mutations in cis for the methylenetetrahydrofolate
RT   reductase (MTHFR) gene, and description of five novel mutations in
RT   MTHFR.";
RL   Am. J. Hum. Genet. 59:1268-1275(1996).
//