ID   GM28764
AC   CVCL_D6YF
DR   Coriell; GM28764
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Arg514Ter (c.1540C>T); ClinVar=VCV000011696; Zygosity=Hemizygous (Coriell=GM28764).
CC   Sequence variation: Mutation; HGNC; HGNC:19954; SLC25A22; Simple; p.Arg44Cys (c.130C>T); ClinVar=VCV000207160; Zygosity=Heterozygous (Coriell=GM28764).
CC   Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
CC   Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
DI   NCIt; C125665; Cerebral creatine deficiency syndrome 1
DI   ORDO; Orphanet_52503; X-linked creatine transporter deficiency
OX   NCBI_TaxID=9606; ! Homo sapiens (Human)
SX   Male
AG   3Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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