ID   GM28735
AC   CVCL_D3A0
DR   Coriell; GM28735
DR   Wikidata; Q127380922
CC   Population: Caucasian; English/Irish.
CC   Sequence variation: Mutation; HGNC; HGNC:1550; CBS; Simple; p.Gly307Ser (c.919G>A); ClinVar=VCV000000117; Zygosity=Homozygous (Coriell=GM28735).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C84765; Homocystinuria
DI   ORDO; Orphanet_394; Classic homocystinuria
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   36Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
//