ID   GM28589
AC   CVCL_C7LD
SY   GM28589*B
DR   Coriell; GM28589
DR   Wikidata; Q117704441
CC   Population: Chinese; Taiwan.
CC   Sequence variation: Mutation; HGNC; HGNC:4175; GATM; Simple; p.Ala97Valfs*11 (c.484+1G>T); ClinVar=VCV000021299; Zygosity=Homozygous (Coriell=GM28589).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C198575; Cerebral creatine deficiency syndrome 3
DI   ORDO; Orphanet_35704; L-arginine:glycine amidinotransferase deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
HI   CVCL_C7LC ! GM27955
SX   Female
AG   18Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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