ID   GM28532
AC   CVCL_C0M7
DR   Coriell; GM28532
DR   Wikidata; Q112929621
CC   Population: African American and Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ile256Asn (c.767T>A); ClinVar=VCV000187883; Zygosity=Heterozygous (Coriell=GM28532).
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Trp583Ter (c.1748G>A); ClinVar=VCV000998376; Zygosity=Heterozygous (Coriell=GM28532).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
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   1Y6M
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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