ID   GM28467
AC   CVCL_C0LL
DR   Coriell; GM28467
DR   Wikidata; Q112929618
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Gly67Asp (c.200G>A); Zygosity=Hemizygous (Coriell=GM28467).
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_C0LK ! GM28466
SX   Male
AG   2Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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