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Cellosaurus GM25268 (CVCL_IN36)

[Text version]
Cell line name GM25268
Accession CVCL_IN36
Resource Identification Initiative To cite this cell line use: GM25268 (RRID:CVCL_IN36)
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:10990; SLC25A4; Simple; p.Gln175Argfs*38 (c.523delC); ClinVar=VCV000215174; Zygosity=Homozygous (Coriell=GM25268).
Disease Mitochondrial DNA depletion syndrome 12 (NCIt: C129977)
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome (ORDO: Orphanet_1369)
Species of origin Homo sapiens (Human) (NCBI Taxonomy: 9606)
Sex of cell Female
Age at sampling 16Y
Category Transformed cell line
Cross-references
Cell line collections (Providers) Coriell; GM25268
Encyclopedic resources Wikidata; Q54853862
Entry history
Entry creation01-Dec-2016
Last entry update19-Dec-2024
Version number12