ID   GM27909
AC   CVCL_ZW46
DR   Coriell; GM27909
DR   Wikidata; Q102113942
CC   Population: Caucasian; German.
CC   Sequence variation: Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Val277_Leu281dup (c.829_843dup15); ClinVar=VCV000810773; Zygosity=Hemizygous (Coriell=GM27909).
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)
SX   Male
AG   10Y
CA   Finite cell line
DT   Created: 29-10-20; Last updated: 19-12-24; Version: 8
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