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Cellosaurus GM27910 (CVCL_ZW47)

[Text version]
Cell line name GM27910
Accession CVCL_ZW47
Resource Identification Initiative To cite this cell line use: GM27910 (RRID:CVCL_ZW47)
Comments Population: Caucasian; British.
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.Asn125Tyr (c.373A>T); Zygosity=Hemizygous (Coriell=GM27910).
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 17Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM27910
Encyclopedic resources Wikidata; Q102113944
Entry history
Entry creation29-Oct-2020
Last entry update19-Dec-2024
Version number7