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Cellosaurus GM28774 (CVCL_D6YI)

[Text version]
Cell line name GM28774
Accession CVCL_D6YI
Resource Identification Initiative To cite this cell line use: GM28774 (RRID:CVCL_D6YI)
Comments Population: Caucasian; Ukrainian.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:1550; CBS; Simple; p.His22Arg (c.65A>G); ClinVar=VCV000212870; Zygosity=Heterozygous (Coriell=GM28774).
  • Mutation; HGNC; HGNC:11055; SLC6A8; Simple; p.Pro382Leu (c.1145C>T); ClinVar=VCV000533700; Zygosity=Hemizygous (Coriell=GM28774).
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_D6YJ ! GM28876
Sex of cell Male
Age at sampling 10Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28774
Entry history
Entry creation10-Sep-2024
Last entry update19-Dec-2024
Version number2