ID   GM28774
AC   CVCL_D6YI
DR   Coriell; GM28774
CC   Population: Caucasian; Ukrainian.
CC   Sequence variation: Mutation; HGNC; HGNC:1550; CBS; Simple; p.His22Arg (c.65A>G); ClinVar=VCV000212870; Zygosity=Heterozygous (Coriell=GM28774).
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Pro382Leu (c.1145C>T); ClinVar=VCV000533700; Zygosity=Hemizygous (Coriell=GM28774).
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)
OI   CVCL_D6YJ ! GM28876
SX   Male
AG   10Y
CA   Transformed cell line
DT   Created: 10-09-24; Last updated: 19-12-24; Version: 2
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