ID   GM29115
AC   CVCL_D6WN
SY   GM29115*B
DR   Coriell; GM29115
CC   Population: Indian.
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Glu142del (c.424_426delGAG); dbSNP=rs1736323141; Zygosity=Homozygous (Coriell=GM29115).
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)
HI   CVCL_ZW56 ! GM27892
SX   Male
AG   3Y
CA   Induced pluripotent stem cell
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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