ID   GM28379
AC   CVCL_D6XM
DR   Coriell; GM28379
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Val78Glu (c.233T>A); Zygosity=Heterozygous (Coriell=GM28379).
CC   Sequence variation: Mutation; HGNC; HGNC:4136; GAMT; Simple; p.Arg105Glyfs*26 (c.299_311dup13); ClinVar=VCV000008302; Zygosity=Heterozygous (Coriell=GM28379).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
DI   NCIt; C173468; Cerebral creatine deficiency syndrome 2
DI   ORDO; Orphanet_382; Guanidinoacetate methyltransferase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
OI   CVCL_D3A1 ! GM28756
SX   Female
AG   18Y
CA   Finite cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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