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Cellosaurus GM28048 (CVCL_C7M2)

[Text version]
Cell line name GM28048
Accession CVCL_C7M2
Resource Identification Initiative To cite this cell line use: GM28048 (RRID:CVCL_C7M2)
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.Phe107del (c.318CTT[1]) (c.321_323delCTT); ClinVar=VCV000021448; Zygosity=Heterozygous (Coriell=GM28048).
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 Female
Age at sampling 41Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28048
Encyclopedic resources Wikidata; Q117704373
Entry history
Entry creation21-Mar-2023
Last entry update19-Dec-2024
Version number4