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Cellosaurus GM28309 (CVCL_D2ZR)

[Text version]
Cell line name GM28309
Accession CVCL_D2ZR
Resource Identification Initiative To cite this cell line use: GM28309 (RRID:CVCL_D2ZR)
Comments Population: Caucasian and Chinese.
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.Gln114His (c.342G>C); ClinVar=VCV000940774; Zygosity=Hemizygous (Coriell=GM28309).
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_D2ZQ ! GM28288
Sex of cell Male
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM28309
Encyclopedic resources Wikidata; Q127380917
Entry history
Entry creation30-Jan-2024
Last entry update19-Dec-2024
Version number3