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Cellosaurus GM28788 (CVCL_D6YU)

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Cell line name GM28788
Accession CVCL_D6YU
Resource Identification Initiative To cite this cell line use: GM28788 (RRID:CVCL_D6YU)
Comments Population: Korean.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:8582; PAH; Simple; p.Tyr356Ter (c.1068C>A); ClinVar=VCV000092729; Zygosity=Heterozygous (Coriell=GM28788).
  • Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Asn336del (c.1000AAC[2]) (c.1006_1008delAAC); ClinVar=VCV000265402; Zygosity=Hemizygous (Coriell=GM28788).
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)
Originate from same individual CVCL_F0YH ! GM29687
Sex of cell Male
Age at sampling 2Y6M
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28788
Entry history
Entry creation10-Sep-2024
Last entry update27-Nov-2025
Version number3