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Cellosaurus GM25288 (CVCL_HL68)

[Text version]
Cell line name GM25288
Accession CVCL_HL68
Resource Identification Initiative To cite this cell line use: GM25288 (RRID:CVCL_HL68)
Comments Population: Caucasian; Mennonite.
Transformant: NCBI_TaxID; 10376; Epstein-Barr virus (EBV).
Derived from site: In situ; Peripheral blood; UBERON=UBERON_0000178.
Sequence variations
  • Mutation; HGNC; HGNC:18127; TUBGCP6; Simple; p.Ter1820Glyext*16 (c.5458T>G); ClinVar=VCV000030809; Zygosity=Homozygous (Coriell=GM25288).
Disease Microcephaly and chorioretinopathy, autosomal recessive, type 1 (NCIt: C129306)
Autosomal recessive chorioretinopathy-microcephaly syndrome (ORDO: Orphanet_2518)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 3Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25288
Encyclopedic resources Wikidata; Q54853865
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number13