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Cellosaurus GM28779 (CVCL_D6YK)

[Text version]
Cell line name GM28779
Accession CVCL_D6YK
Resource Identification Initiative To cite this cell line use: GM28779 (RRID:CVCL_D6YK)
Comments Population: Caucasian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Asp431Leufs*27 (c.1290_1309del20); ClinVar=VCV000280650; Zygosity=Hemizygous; Note=De novo mutation (Coriell=GM28779).
Disease Cerebral creatine deficiency syndrome 1 (NCIt: C125665)
X-linked creatine transporter deficiency (ORDO: Orphanet_52503)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Male
Age at sampling 15Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28779
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2