ID   GM27892
AC   CVCL_ZW56
DR   Coriell; GM27892
DR   Wikidata; Q102113940
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Glu142del (c.424_426delGAG); dbSNP=rs1736323141; Zygosity=Homozygous (Coriell=GM27892).
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   3Y
CA   Transformed cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 7
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