ID   GM27874
AC   CVCL_ZW49
DR   Coriell; GM27874
DR   Wikidata; Q102113937
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=GM27874).
CC   Derived from site: In situ; Arm, skin; UBERON=UBERON_0002427.
CC   Cell type: Fibroblast of skin; CL=CL_0002620.
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_ZW48 ! GM27863
SX   Male
AG   4Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
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