ID   GM28726
AC   CVCL_D6Y6
DR   Coriell; GM28726
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:1550; CBS; Simple; p.Arg121Cys (c.361C>T); ClinVar=VCV000212842; Zygosity=Heterozygous (Coriell=GM28726).
CC   Sequence variation: Mutation; HGNC; HGNC:1550; CBS; Simple; p.Asn149Glufs*39 (c.444dup); ClinVar=VCV001456891; Zygosity=Heterozygous (Coriell=GM28726).
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   Male
AG   9Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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