ID   WG2184
AC   CVCL_RA72
DR   Wikidata; Q54993965
RX   PubMed=10679944;
CC   From: Montreal Children's Hospital cell repository; Montreal; Canada.
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ala116Thr (c.346G>A); ClinVar=VCV001333614; Zygosity=Heterozygous (PubMed=10679944).
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Tyr374Ter (c.1122C>G); 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   Sex unspecified
AG   16Y
CA   Finite cell line
DT   Created: 05-03-18; Last updated: 19-12-24; Version: 11
//
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).
//