ID   GM28075
AC   CVCL_C0LF
DR   Coriell; GM28075
DR   Wikidata; Q112929592
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:18060; ARX; Simple; p.Ala151_Ala155dup (c.441_455dup15); ClinVar=VCV000818170; Zygosity=Hemizygous (Coriell=GM28075).
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Asn336del (c.1000AAC[2]) (c.1006_1008delAAC); ClinVar=VCV000265402; Zygosity=Hemizygous (Coriell=GM28075).
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   10Y
CA   Transformed cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
//