ID   GM27393
AC   CVCL_YN20
DR   Coriell; GM27393
DR   Wikidata; Q93933216
CC   Population: Caucasian; English/German/Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Ala222Val (c.665C>T) (C677T); ClinVar=VCV000003520; Zygosity=Unspecified (Coriell=GM27393).
CC   Sequence variation: Mutation; HGNC; HGNC:7436; MTHFR; Simple; p.Glu429Ala (c.1286A>C) (1298A>C); ClinVar=VCV000003521; Zygosity=Unspecified (Coriell=GM27393).
CC   Sequence variation: Mutation; HGNC; HGNC:7883; NOTCH3; Simple; p.Arg141Cys (c.421C>T); ClinVar=VCV000447846; Zygosity=Heterozygous (Coriell=GM27393).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C84606; CADASIL syndrome
DI   NCIt; C84524; 5' 10' methylenetetrahydrofolate reductase deficiency
DI   ORDO; Orphanet_136; CADASIL
DI   ORDO; Orphanet_395; Homocystinuria due to methylene tetrahydrofolate reductase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_VP80 ! GM27171
SX   Female
AG   44Y
CA   Finite cell line
DT   Created: 12-03-20; Last updated: 19-12-24; Version: 11
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