ID   GM28782
AC   CVCL_D6YP
DR   Coriell; GM28782
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Met1Val (c.1A>G); ClinVar=VCV000205591; Zygosity=Heterozygous (Coriell=GM28782).
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Val110Phe (c.328G>T); ClinVar=VCV000205580; Zygosity=Heterozygous (Coriell=GM28782).
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: 10-09-24; Last updated: 19-12-24; Version: 2
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