ID   WG2006
AC   CVCL_RA71
SY   2006
DR   Wikidata; Q54993955
RX   PubMed=8940272;
RX   PubMed=10679944;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Population: Caucasian; Italian.
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Gly387Asp (c.1160G>A); ClinVar=VCV002202702; Zygosity=Heterozygous (PubMed=10679944).
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Glu586Lys (c.1756G>A); Zygosity=Heterozygous (PubMed=10679944).
CC   Miscellaneous: Cell line no longer available.
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   14Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 10
//
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).
//
RX   PubMed=10679944; DOI=10.1002/(SICI)1098-1004(200003)15:3<280::AID-HUMU9>3.0.CO;2-I;
RA   Sibani S., Christensen B., O'Ferrall E., Saadi I., Hiou-Tim F.,
RA   Rosenblatt D.S., Rozen R.;
RT   "Characterization of six novel mutations in the
RT   methylenetetrahydrofolate reductase (MTHFR) gene in patients with
RT   homocystinuria.";
RL   Hum. Mutat. 15:280-287(2000).
//