ID   GM28820
AC   CVCL_D6YX
DR   Coriell; GM28820
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:408; ALDH5A1; Simple; p.Trp204Ter (c.612G>A); ClinVar=VCV000001357; Zygosity=Heterozygous (Coriell=GM28820).
CC   Sequence variation: Mutation; HGNC; HGNC:408; ALDH5A1; Simple; p.Arg412Ter (c.1234C>T); ClinVar=VCV000001358; Zygosity=Heterozygous (Coriell=GM28820).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   ORDO; Orphanet_22; Succinic semialdehyde dehydrogenase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Female
AG   13Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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