ID   GM28070
AC   CVCL_C7M4
DR   Coriell; GM28070
DR   Wikidata; Q117704375
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Lys109Lys (c.327G>A); ClinVar=VCV000021065; Zygosity=Heterozygous; Note=Affects splicing (Coriell=GM28070).
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Trp174Ter (c.522G>A); ClinVar=VCV000205584; Zygosity=Heterozygous (Coriell=GM28070).
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)
OI   CVCL_C7M5 ! GM28096
SX   Male
AG   16Y
CA   Transformed cell line
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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