ID   GM28757
AC   CVCL_D3A2
DR   Coriell; GM28757
DR   Wikidata; Q127380924
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Val78Glu (c.233T>A); Zygosity=Heterozygous (Coriell=GM28757).
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Arg105Glyfs*26 (c.299_311dup13); ClinVar=VCV000008302; Zygosity=Heterozygous (Coriell=GM28757).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C173468; Cerebral creatine deficiency syndrome 2
DI   ORDO; Orphanet_382; Guanidinoacetate methyltransferase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   10Y
CA   Transformed cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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