ID   GM28466
AC   CVCL_C0LK
DR   Coriell; GM28466
DR   Wikidata; Q112929617
CC   Population: Caucasian.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Gly67Asp (c.200G>A); Zygosity=Hemizygous (Coriell=GM28466).
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_C0LL ! GM28467
SX   Male
AG   2Y10M
CA   Finite cell line
DT   Created: 23-06-22; Last updated: 19-12-24; Version: 6
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