ID   GM28288
AC   CVCL_D2ZQ
DR   Coriell; GM28288
DR   Wikidata; Q127380915
CC   Population: Caucasian and Chinese.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Gln114His (c.342G>C); ClinVar=VCV000940774; Zygosity=Hemizygous (Coriell=GM28288).
CC   Derived from site: In situ; Skin; UBERON=UBERON_0002097.
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_D2ZR ! GM28309
SX   Male
AG   3Y
CA   Finite cell line
DT   Created: 30-01-24; Last updated: 19-12-24; Version: 3
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