ID   GM28047
AC   CVCL_B5LB
DR   Coriell; GM28047
DR   Wikidata; Q111733239
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Phe107del (c.318CTT[1]) (c.321_323delCTT); ClinVar=VCV000021448; Zygosity=Hemizygous (Coriell=GM28047).
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   6Y
CA   Transformed cell line
DT   Created: 17-03-22; Last updated: 19-12-24; Version: 6
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