ID   GM27200
AC   CVCL_UF18
DR   Coriell; GM27200
DR   Wikidata; Q93933071
CC   Sequence variation: Mutation; HGNC; HGNC:7883; NOTCH3; Simple; p.Arg133Cys (c.397C>T); ClinVar=VCV000009225; Zygosity=Heterozygous (Coriell=GM27200).
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   48Y
CA   Transformed cell line
DT   Created: 13-11-18; Last updated: 19-12-24; Version: 9
//