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Cellosaurus GM25503 (CVCL_GZ60)

[Text version]
Cell line name GM25503
Accession CVCL_GZ60
Resource Identification Initiative To cite this cell line use: GM25503 (RRID:CVCL_GZ60)
Comments Population: Caucasian; Mennonite.
Derived from site: In situ; Skin; UBERON=UBERON_0002097.
Cell type: Fibroblast of skin; CL=CL_0002620.
Sequence variations
  • Mutation; HGNC; HGNC:18127; TUBGCP6; Simple; p.Ter1820Glyext*16 (c.5458T>G); ClinVar=VCV000030809; Zygosity=Homozygous (Coriell=GM25503).
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 Male
Age at sampling 5M
Category Finite cell line
Cross-references
Cell line collections (Providers) Coriell; GM25503
Encyclopedic resources Wikidata; Q54853998
Entry history
Entry creation26-Sep-2016
Last entry update19-Dec-2024
Version number12