ID   GM27172
AC   CVCL_UF17
DR   Coriell; GM27172
DR   Wikidata; Q93933053
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:7883; NOTCH3; Simple; p.Arg141Cys (c.421C>T); ClinVar=VCV000447846; Zygosity=Heterozygous (Coriell=GM27172).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84606; CADASIL syndrome
DI   ORDO; Orphanet_136; CADASIL
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   Adult
CA   Transformed cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 9
//