ID   GM28937
AC   CVCL_C7M0
SY   GM28937*B
DR   Coriell; GM28937
DR   Wikidata; Q117704454
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Phe408del (c.1216_1218TTC[2]) (c.1222_1224delTTC); ClinVar=VCV000011698; Zygosity=Hemizygous (Coriell=GM28937).
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)
HI   CVCL_ZW48 ! GM27863
SX   Male
AG   4Y
CA   Induced pluripotent stem cell
DT   Created: 21-03-23; Last updated: 19-12-24; Version: 4
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